April 5 Flashcards
What does HPV have a tropism for and where do lesions most often occur?
Stratified squamous epithelium
True vocal cords
Cervix
Anus
What is Treacher Collins syndrome
Neural crest dysfunction
–Mandibular hypoplasia, facial abnormalities caused by abnormal development of the 1st and 2nd branchial arches
1st–trigeminal nerve, mandible, maxilla, zygoma, incus and malleus
2nd– facial nerve, stapes, styloid process, lessor horn of the hyoid
What two GI hormones cause an increase in Pancreatic HCO3- release and what cells are they produced from?
Cholecystokinin –I cells in small intestine
Secretin– S cells in the small intestine
What is the deficient enzyme with Pompe disease and how does it present?
Lysosomal a-1,4-glucosidase deficiency
Pompe trashes the pump–heart, liver and muscle
Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, marcoglossia, hypotonia and systemic findings leading to early death
PAS + lysosomes on muscle biopsy
What are the 3 stop codons?
UAA
UAG
UGA
Lesion to the anterior cerebral artery can cause what symptoms?
Contralateral paralysis and sensory loss–lower limb
Urinary incontinence
Behavioral changes
What class of glucose transport proteins are insulin-mediated?
GLUT-4 which are on muscle cells and adipocytes
Where are the insulin-independent glucose transporters located?
GLUT- 1, 2, 3 and 5
Brain Intestine RBCs Kidney Liver
What is the cause of Mallory-Weiss syndrome?
Vomiting–increased intraabdominal pressure
What causes a right shift in the O2 dissociation curve?
Right shift–ACE BATs right handed
Acid CO2 Exercise 2,3-BPG Altitude Temperature
What is the responsibility of the Golgi tendon system?
Negative feedback that monitors and maintains muscle force –sensitive to increases in muscle tension
Mucosal defects that do NOT fully extend through the muscularis mucosa?
Erosions
-Can be caused by NSAIDs, Burns (curling), Brain injury (Cushing), acute stress, ETOH or tobacco use
What is defective in Chronic granulomatous disease and what two test are used for dx?
Defect of NADPH oxidase
Abnormal dihydrorhodamine–decreased green fluorescence
Nitroblue tetrazolium dye reduction test
What is the cause of stress incontinence?
Urethral sphincter dysfunction
Leakage with increased intra-abdominal pressure–sneezing/lifting
Acute transplant rejection is what type of HSR?
Type IV–CD8+ T cell mediated against donor MHCs
Dilation of the coronary sinus is seen with what disease?
Pulmonary HTN –due to elevated right heart pressures
What is the most likely finding with an Uncal herniation?
Medial temporal lobe herniates and compresses the ipsilateral CN III–BLOWN PUPIL—dilated pupil
What is transthyretin and what does it cause?
Protein tetramer produced by the liver that can mutate, misfold and infiltrate the myocardium causing diastolic heart failure due to decreased ventricle compliance
If very long chain fatty acids or branched chain fatty acids are unable to be oxidized what is the most likely defect?
In born error of metabolism with a defect in peroxisomes
Beta oxidation–oxidizes VLCFAs
Alpha oxidation–oxidized BCFAs
What occurs within the nucleolus of a cell–stains basophilic (DARK)?
transcription of rRNA–using RNA polymerase I
What enzyme is deficient in Porphyria cutanea trada and how does it present?
Uroporphyrinogen decarboxylase
Accumulation of Uroporphyrin–tea colored urine
Photosensitivity–blister and vesicle formation on sun-exposed areas as well as edema, pruritus, pain and erythema
What type of HSR is serum sickness?
Type III HSR–involves immune complex deposition and fixation of complement that leads to tissue damage
Fever, urticaria, arthralgia, proteinuria, lymphadenopathy–occur 5-10 days after antigen exposure
What 2 organisms are the most prominent within the intra-abdominal cavity?
B. fragilis
E. coli
Where does ADH act on within the kidney?
Medullary segment of the collecting duct –increases urea and water reabsorption
Wide, fixed splitting of S2 is characteristic of what heart defect and what irreversible problem can this lead to?
ASD–can lead to pulmonary vascular sclerosis
What heart chamber is closest to the esophagus and would be closest to the probe during TEE?
Left atrium
What structure sits posterior to the esophagus?
Descending Aorta
What does activation of the GABA-A receptor cause?
Increase in Cl- entering the cell causing hyper polarization
The uterine arteries branch off of what arteries?
Internal iliac arteries
What decreases during exercise compared to resting?
TPR decreases due to vasodilation to feed working muscles and maximize CO
What is it called where there is the presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease?
Heteroplasmy
Important mito diseases:
- Leber hereditary optic neuropathy–leads to bilateral vision loss
- Myoclonic epilepsy with ragged-red fibers–myoclonic seizures and myopathy associated with exercise
- Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes–MELAS
What 2 lung parameters are markedly increased with emphysema?
Total lung capacity
Functional residual capacity
What activates Azathioprine and 6-mercaptopurine and what inactivates them? What is CI with the use of these meds?
Activated by HGPRT
Inactivated by xanthine oxidase
CI with allopurinol or febuxostat–increase toxicity
Administration of NE will cause what 3 things to occur–include what occurs within the cell?
a1– increased IP3–vasoconstriction
a2–decreased cAMP –decreased release of NE and insulin
B1–increased cAMP–increased contractility
What is the cause of B-thalassemia?
Caused by a variety of mutations affecting the transcription, processing, and translation of B-globin mRNA
Reed-Sternberg cells =
Hodgkin lymphoma
What diseases mimic hydrocephalus (hydrocephalus ex vacuo) where there is no increase in ICP?
Alzheimer disease
Advanced HIV
Pick disease
Caused by brain atrophy
What provides sensory to the anterior 2/3 of the tongue?
Mandibular branch (V3) of trigeminal --anything anterior to the terminal sulcus and foramen cecum
What provides sensory to the posterior 1/3 of the tongue?
Glossopharyngeal nerve IX
–anything posterior to the terminal sulcus and foramen cecum
How is number need to harm calculated?
NNH= 1/AR
AR= a/a+b - c/c+d
What to homeobox or Hox genes encode for?
Transcription factors –that bind to the regulatory region on DNA
Involved in segmental organization of embryo in a craniocaudal direction
–Hox mutation–> appendages in wrong locations
What cranial nerve is responsible for monitoring carotid body and sinus chemo and baroreceptors and what cranial nerve is responsible for monitoring aortic arch chemo and baroreceptors?
Carotid body and sinus–Glossopharyngeal IX
Aortic arch–Vagus X
What is the cause of familial hypocalciuric hypercalcemia?
Defect in the CaSR– G-protein coupled receptor–requiring higher than normal Ca2+ levels in order to suppress PTH
- -Hypercalcemia
- -boarderline high PTH
- -Low urinary Ca
Mnemonic to remember the carpal bones?
So Long To Pinky, Here Comes The Thumb
Scaphoid Lunate Triquetrum Pisiform Hamate Capitate Trapezoid Trapezium
What does undigested lactose do to the stool?
Causes osmotic diarrhea and acidification of the stool
What is defective when sideroblastic anemia is present?
Defect in heme synthesis due to X-linked defect in d-ALA synthase gene
B6 is a cofactor for d-ALA synthase–so this can be seen with isoniazid tx
Eczema, recurrent infections and thrombocytopenia is the triad for what disease?
Wiskott-Aldrich syndrome
WATER
What drug is used for short-term tx of insomnia that has a much lower risk of tolerance and dependence?
Zolpidem
Oral contraceptives are used for treating hirsutism seen with PCOS. What is the mechanism by which this occurs?
Oral contraceptives suppress pituitary LH secretion leading to decreased ovarian androgen production
What joints are involved with rheumatoid arthritis?
MCP
PIP
Wrist
Cervical spine
