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301 Cards in this Set
- Front
- Back
- 3rd side (hint)
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X-linked recessive disorders?
HInt: Be Wise, Fool's GOLD Heeds False Hope |
Bruton's agammagloulinemia,
Wiskott Aldrich, Fragile X, G6PD deficiency, Ocular albinism, Lesch-Nyhan syndrome, Duchenne's muscular dystrophy, Hemophilia A and B, Fabry's dz, Hunter's syndrome. |
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Trinucleotide repeat expansion diseases:
Hint: Try (trinuclueotide) Hunting for My Fried eggs (X) |
Huntington's, Myotonic dystrophy, Friedreich's ataxia, Fragile X
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may show anticipation (dz severity increases and age of onset decreases in successive generations.
carrier males transmit gene wo further expansion of repeats. carrier females expand repeats during oogenesis with full mutation of 230-4000 repeats. |
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AL protein seen in?
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Primary Amyloidosis
Derived from Ig light chains (multiple myeloma) |
lambda light chains much more common than kappa
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AA protein seen in?
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Secondary or "Reactive Amyloidosis"
Derived from serum amyloid-associated (SAA) protein (in chronic inflammatory diseases) |
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Normal transthyretin seen in?
Hint: old fogies |
Senile cardiac amyloidosis
Derived from prealbumin (AF) |
AF=old Fogies
transthyretin is a normal serum protein that binds/transports thyroxine and retinol |
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Amylin seen in?
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Diabetes mellitus type 2
Derived from islet cell amyloid protein |
AE=Endocrine
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A-CAL seen in?
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Medullary carcinoma of the thyroid
Derived from calcitonin |
A-CAL=CALcitonin
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APP (amyloid precursor protein) seen in?
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Alzheimer's dz aka "senile cerebral amyloidosis"
Derived from beta-amyloid (a transmembrane glycoprotein precursor) on chromosome 21 |
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Beta 2 microglobulin build-up seen in?
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Dialysis-associated amyloidosis
Derived from MHC I proteins because these are not filtered by the dialysis membrane |
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AANF buildup seen in?
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isolated atrial amyloidosis
Derived from atrial natriuretic factor |
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Deposition of MUTANT transthyretin in peripheral or autonomic nerves?
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Familial amyloidotic polyneuropoaties
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autosomal dominant
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E-Selectin and P-Selectin on vascular endothelium binds to _____ during ROLLING.
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Sialyl Lewis (aka L-selectin) on leukocyte.
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Tight binding of leukocytes during extravasation uses what attachments?
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ICAM-1 on vascullar endothelium binds to LFA-1 integrin on leukocyte. LFA-1 has other names including beta2-integrin and CD11a:CD18.
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LFA-1 is activated by what cytokines?
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C5a or LTB4
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Defect in leukocyte adhesion deficiency type 1?
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Decreased CD11a:CD18 (or beta2-integrin or LFA-1)
delayed umbilical cord separation, severe gingivitis, poor wound healing, neutrophilic leukocytosis |
tight bindin is the process affected
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Defect in leukocyte adhesion deficiency type 2?
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decreased selectins
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rolling is the process affected
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abl is an oncogene or tumor suppressor?
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oncogene
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c-myc is an oncogene or tumor suppressor?
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oncogene
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bcl-2 is an oncogene or tumor suppressor
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oncogene
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erb-B2 is an oncogene or tumor suppressor?
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oncogene
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ras is an oncogene or tumor suppressor?
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oncogene
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L-myc is an oncogene or tumor suppressor?
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oncogene
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N-myc is an oncogene or tumor suppressor?
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oncogene
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ret is an oncogene or tumor suppressor?
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oncogene
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c-kit is an oncogene or tumor suppressor?
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oncogene
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bcl-1 is an oncogene or tumor suppressor?
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oncogene
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Rb is an oncogene or tumor suppressor?
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tumor suppressor
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BRCA1/BRCA2 is an oncogene or tumor suppressor?
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tumor suppressor
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p53 is an oncogene or tumor suppressor?
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tumor suppressor
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p16/INK4a is an oncogene or tumor suppressor?
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tumor suppressor
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APC is an oncogene or tumor suppressor?
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tumor suppressor
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WT1 is an oncogene or tumor suppressor?
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tumor suppressor
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NF1/NF2 is an oncogene or tumor suppressor?
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tumor suppressor
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DPC is an oncogene or tumor suppressor?
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tumor suppressor
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DCC is an oncogene or tumor suppressor?
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tumor suppressor
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PTEN is an oncogene or tumor suppressor?
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tumor suppressor
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BAX, FAS is an oncogene or tumor suppressor?
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tumor suppressors
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abl seen in?
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CML
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increases tyrosine kinase activity
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c-myc seen in
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Burkitt's lymphoma
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bcl-2 seen in...
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follicular and undifferentiated lymphomas
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anti-apoptotic
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erb-b2 seen in
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Breast, ovarian and gastric CA
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an epidermal growth factor
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ras seen in...
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Colon carcinoma
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L-myc seen in...
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Lung tumor
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helix loop helix
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N-myc seen in...
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Neuroblastoma
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helix loop helix
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ret seen in...
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MEN II and MEN III
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c-kit seen in....
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Gastrointestinal stromal tumor (GIST)
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tyrosine kinase activty
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bcl-1 seen in...
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mantle cell lymphoma
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t(11;14)
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mutation in abl oncogene?
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increased tyrosine kinase activity
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mutation in ras oncogene?
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glycine to valine shift that inhibits GTPase so GTP is permanently bound and G-protein is continuously ON
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mutation in myc oncogenes?
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myc gene is a transcriptional activator that when overexpressed will increase production of growth-related genes such as cyclin D1 leading to CA
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mutation in bcl oncogene
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translocation on chromosome near an enhancer. anti-apopototic function is elaborated.
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Rb seen in...
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Retinoblastoma, osteosarcoma
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BRCA1 seen in....
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Breast and ovarian cancer
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a zinc finger gene regulatory protein
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BRCA2 seen in...
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Breast cancer
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p53 seen in
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Most human cancers, Li-Fraumeni syndrome
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a zinc finger gene regulatory protein
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p16/INK4a seen in...
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Melanoma
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APC seen in...
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Colorectal cancer
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WT1 seen in....
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Wilm's tumor
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NF1/NF2 seen in....
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Neurofibromatosis type 1/Neurofibromatosis type 2
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DPC seen in...
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Pancreatic cancer
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DCC seen in...
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Colon cancer
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PTEN seen in...
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Endometrial CAncer
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normal function of BAX, FAS...
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pro-apoptotic
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when mutated there is no apoptosis
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Mutation that inactivates APC...
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prevents destruction of beta-catenin which then translocates to the nucleus and activates transcription (components of the WNT signaling pathway)
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Mutation that inactivates p16/INK4a....
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leads to dysregulation of cell cycle bc in normal state p16 inhibits cdk's. mutation leads to melanoma.
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NF1 encodes...
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GTPase so inactivation results in permanently activated Ras (GTP-bound). Mutation leads to neurofibromatosis 1.
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BRCA1/BRCA2 encodes....
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DNA repair genes
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Rb encodes....
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G1-->S checkpoint control during cell cycle which when mutated leads to Retinoblastoma, Osteosarcoma
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hMSH1/hMSH2 encodes....
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Mismatch repair genes which when mutated (due to microsatellite instability) leads to HNPCC
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Familial tumors are associated with an oncogene or a tumor suppressor gene?
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one defective copy of a tumor suppressor gene.
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HTLV-1 leads to what CA?
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Adult T-cell leukemia
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the virus promotes T-cell growth via activation of IL-2 receptors
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HPV viral genes E6 and E7 do what....
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E6 inactivates p53. E7 inactivates Rb.
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HHV-8 virus causes what cancer...
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Kaposi's sarcoma, body cavity fluid B-cell lymphoma
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How do HBV and HCV cause hepatocellular cancer?
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Regenerating damaged hepatocytes eventually develop muations.
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How does EBV cause Burkitt's lymphoma, nasopharyngeal carcinoma?
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Infects B-cells and promotes excess growth leading to accumulated mutations.
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PSA
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prostate specific antigen used to screen for prostate carcinoma
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prostatic acid phosphatase
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tumor marker for prostate carcinoma
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CEA
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carcinoembryonic antigen - very nonspecific but produced by 70 percent of colorectal and pancreatic cancers. also produced by some gastric and breast carcinomas.
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alpha-fetoprotein
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normally made by fetus. also a marker seen in hepatocellular carcinoma, gastric and breast carcinomas
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beta-hCG
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Hydatidaform moles, Choriocarcinomas,
Gestational trophoblastic tumors |
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CA-125
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Marker for ovarian ca, malignant epithelial tumors
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S-100
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marker for melanoma, neural tumors, astrocytomas
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ALP
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marker for mets to bone, obstructive biliary dz, Paget's dz of the bone
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Bombesin
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marker for neuroblastoma, lung and gastric cancer
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TRAP
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tartrate-resistant acid phosphatase. Marker for hairy cell leukemia (a B-cell neoplasm)
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CA-19-9
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Marker for pancreatic adenocarcinoma.
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Aflatoxins cause
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hepatocellular carcinoma
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vinyl chloride causes
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angiosarcoma of the liver
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CCL4 causes
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centrilobular necrosis and fatty change of the liver
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nitrosamines (i.e. in smoked foods) cause
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esophagus and stomach cancers
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cigarette smoke causes
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larnx, lung, renal cell, and transitional cell carcinomas
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asbestos causes
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mesothelioma and bronchogenic carcinoma
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arsenic causes
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squamous cell carcinoma and angiosarcoma of the liver
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naphthalene (aniline) dyes cause
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transitional cell carcinoma
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alkylating agents like benzene cause
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leukemia
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cadmium causes
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prostate cancer
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Paraneoplasm in small cell lung carcinoma
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ACTH or ACTH-like peptide
Causes Cushin's syndrome |
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Paraneoplasm in small cell lung carcinoma and intracranial neoplasms
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ADH
Causes SIADH |
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Paraneoplasm in squamous cell lung carcinoma, renal cell carcinoma, and breast carcinoma
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PTH-related peptide, TGF-beta, TNF, IL-1
Causes hypercalcemia |
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Paraneoplasm in renal cell carcinoma and hemangioblastoma
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erythropoietin
causes polycythemia |
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paraneoplasm in thymoma and small cell lung carcinomas
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antibodies against presynaptic calcium channels at NMJ
causes Lambert-Eaton syndrome |
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paraneoplasm of leukemias and lymphomas
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hyperuricemia due to excess nucleic acid turnover
causes gout and urate nephropathy |
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paraneoplasm from mucin-secreting adenocarcinomas
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trosseau syndrome - a hypercoagulable state
causes marantic vegetations on heart valves with tendency to embolize |
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primary tumors that metastasize to the brain
hint: Lots of Bad Stuff Kills Glia |
Lung, breast, skin (melanoma), kidney, and GI.
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primary tumors that metastasize to the liver
hint: Cancer Sometimes Penetrates Benign Liver |
colon, stomach, pancreas, breast, lung
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primary tumors that metastaszie to bone
hint: P.T. Barnum Loves Kids |
Prostate, Thyroid, Breast, Lung, Kidney
Lung=lytic prostate=blastic breast=Both lytic and blastic |
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psammoma bodies seen in...
Hint: PSaMM |
Papillary ca of the thyroid
Serious cystadenocarcinoma of ovary Meningiomas Mesotheliomas |
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pathophysiological mechanism for amyloidosis?
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proteins accumulate due to excess synthesis or resistance to catabolism and form beta-pleated sheets that deposit EXTRA-cellularly. Accumulation can produce pressure atrophy of adjacent parenchyma.
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Diagnosis of amyloidosis?
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Dx via renal biopsies or in systemic cases via rectal/gingival biopsy.
apple-green birefringence of Congo red stain under polarized light is unique to beta-pleated sheets. |
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P component of beta-pleated sheets in amyloidosis
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is a minor component (less than 5 percent) which is structurally homologous to C-reactive protein.
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alpha-galactosidase A is deficient in?
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Fabry's dz (X-linked recessive)
Ceramide trihexoside accumulates causing peripheral neuropathy, angiokeratomas, heart/renal dz |
X-linked recessive
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beta-glucocerbrosidase deficiency leads to an accumulation of?
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glucocerbroside which causes Gaucher's dz
most common form (type I) shows no neuro impairment |
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sphingomyelinase is deficient in?
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Neimann-Pick dz
Sphingomyelin accumulates leading to progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foamy/vacuolated macrophages |
No man picks his nose with his sphinger!
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GM2 ganglioside accumulates with a deficiency in?
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Hexosaminadase A in Tay Sach's dz
similar symptoms to neimann-pick dz but lysosomes with onion skinning |
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galactocerebroside accumulation causes what dz?
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Krabbe's dz due to deficiency in galactocerbrosidase.
Causes peripheral neuropathy, developmental delay, gobloid cells. |
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Arylsulfatase A is deficient in what dz?
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Metachromatic leukodystrophy
Sulfatides (cerbroside sulfate) accumulate causing central and peripheral demyelination with ataxia and dementia. |
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Mucopolysaccharidoses accumulate what substances in lysosomes?
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heparan sulfate, dermatan sulfate
(Hurler's and Hunter's syndrome) |
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alpha-L-iduronidase is deficient in?
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Hurler's syndrome - developmental delay, gargoylism, airway obstruction, corneal clouding
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iduronate sulfatase is deficient in?
Hint: aim for the X |
X-linked recessive Hunter's syndrome (a milder form of Hurler's plus aggressive behavior)
No corneal clouding |
Hunters aim for the X
X-linked recessive |
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how are lysosomal storage diseases diagnosed?
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often via BM biopsies
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fate of embryo gonad?
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male: testes, seminiferous tubules (male development only if testes differentiating factor (TDF) is present on SRY gene of Y chromosome)
female: ovary, follicles |
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fate of paramesonephric ducts?
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male: minor portion becomes appendix of testes and the remainder involutes (male development takes place only if testes differentiating factor is present influencing the Sertoli cells to relase Mullerian inhibiting factor)
female: uterine tubes, uterus, cervix, and upper part of vagina |
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fate of mesonephric ducts?
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male: epididymis, ductus deferens, seminal vesicle, ejaculatory duct
female: nimor portion becomes the duct of Gartner and the remainder involutes |
hint: mesonephric duct is also known as the Wolffian duct
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fate of genital tubercle in embryo?
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male: glans and body of penis
femaile: clitoris |
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fate of embryo urogenital folds?
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male: ventral aspect of penis
female: labia minora |
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fate of embryo labioscrotal swellings?
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male: scrotum
female: labia majora |
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sucralfate/bismuth are what kind of drugs? what is special about them?
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they are mucosal protectants. when used, they can impair absorption of other meds and need an acidic environment to be activated (so don't use with antacids).
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what drug is a somatostatin analogue? how is it administered?
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ocreotide. must be given parenterally.
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ketone bodies cannot be used by?
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RBC's because they lack mitochondria and liver bc it lacks the mitochondrial enzyme succinyl coA-acetoacetate CoA transferase (also called thiophoras
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muscaranic antagonist class includes which drugs?
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the "---tropine" drugs (atropine, benztropine, homatropine), scopolamine, ipratropium, oxybutynin, glycopyrrolate, pirenzepine, and propantheline
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what might an opioid antagonist cause in an opioid dependent patient?
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withdrawal symptoms (ex. pentazocine which has weak antagonist properties and partial agonist properties)
nalbuphine is similar. |
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what test is confirmatory for acute calculous cholecystitis?
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positive HIDA (cholescintigraphy) - if cystic duct is patent, gallbladder will be visualized with radiolabeled agent; if it is obstructed, it will not be visualized bc agent cannot enter organ.
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choramphenicol MOA? important side effect?
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inhibits bacterial peptidyl transferase enzyme by binding 50s subunit. can cause fatal pancytopenia.
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MeiSSner's plexus is found in the?
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Submucosa of the gut wall. responsible for Secretions.
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Auerbach's plexus is found in the?
HInt: Hour by hour motility |
Muscularis externa of the gut wall. responsible for Motility.
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initiating factor in post-strep glomerulonephirits versus rheumatic fever? What type of hypersensitivity reaction is each?
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GAS (s. pyogenes) pharyngitis OR skin infections like impetigo, cellulitis is impetus for post-strep glomerulonephritis. Type III HS.
Rheumatic fever is always from GAS pharyngitis NOT skin infections. Type II HS. |
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difference in keloids vs. hypertrophic scars?
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keloids - collagen fibers are in PARALLEL arrangements and extend BEYOND borders of original wound.
scars-collagen fibers lie in DISORGANIZED fashion and are LIMITED to borders of original wound. |
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genetic defect in lou gehrig's dz (ALS)? treatment?
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mutation in SOC1-gene that codes copper-zinc superoxide dismutase.
treat with riluzole. this decreases glutamate release. |
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rubeola vs. rubella vs. roseola
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rubeola=measles from paramyxovirus. rash starts at face and spreads to trunk.
rubella=German measles from toga virus. rash also starts at face and spreads to trunk. postauricular and occipital lymphadenopathy is unique however. roseola=exanthem subitum from HHV-6. transient rash on trunk but after fever begins to subside. |
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paradoxical treatment in nephrogeneic diabetes insipidus?
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thiazides
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lithium for bipolar disorders often precipitates nephrogenic diabetes insipidus.
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infant botulism vs. adult botulism?
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infant botulism is due to SPORES. often mild but can be serious.
adult botulism is from PREFORMED TOXIN in cans. almost always more SEVERE. |
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capsaicin does what?
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decreases pain by decreasing substance P in the PNS.
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RRR = ?
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[risk (control) - risk (treatment)] divided by risk (control)
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tends to overstate effectiveness bc risk reduction can be from 50%-->25% or 2%-->1%. clearly the latter is less significant.
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glassy eosinophilic casts in the renal tubules indicate?
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Bence Jones proteins
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cerebral vasospasm 3-8 days after a subarachnoid hemorrhage can be prevented by?
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Calcium channel blockers (especially Nimodipine).
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diuretics, beta-blockers, central sympatholytics, ACE inhibitors and vasodilators are all helpful in intracranial hemorrage from HTN but not in vasospasm from SAH.
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homocysteine can become 2 different things?
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methionine or cystathionine
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MCC for homocysteinuria?
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cystathionine synthase deficiency (so homocysteine cannot become cystathionine)
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homocysteinuria can also be caused by B12 or folate deficiency because homocysteine cannot become methionine.
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cells of arachnoid villi give rise to what type of neoplasm?
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meningiomas - often benign. do not stain for GFAP or synaptophysin.
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GFAP positive neoplasms are most frequent in the nervous system. Seen in GBM, astrocytomas, oligodendrogliomas, ependymomas, and peripheral nerve sheath tumors.
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schwannoma's can originate from which cranial nerve?
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Any cranial nerve except CN II. CN VIII schwannoma's are the most common.
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CN II is covered by oligodendrocytes not schwann cells.
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metformin MOA? major side effect?
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MOA is not well understood but decreases blood sugar by
1)increasing glycolosis 2) decreasing gluconeogenesis 3) decreaseing GI glucose absorption All of this is done with NO RISK of hypOglycemia! Major SE is lactic acidosis. Metformin increases lactate production in the GI which is normally converted to glucose in the liver by gluconeogenesis but metformin is inhibiting this process! Instead lactic acid is excreted via kidneys therefore contraindicated in patients with renal failure or any condition that precipitates lactic acidosis. |
monitor regularly via serum creatinine.
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MCC of porphyria?
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Porphyria cutanea tarda (PCT) - deficiency of uroporphyrinogen III synthase (so no conversion of uroporphyrinogen I to uroporphyrinogen III)
Photosensitivity!! |
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enzyme deficient in acute intermittent porphyria?
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Uroporphyrinogen I synthase (so no conversion of porphobilinogen to uroporhyrinogen I)
No photosensitivity but neuro problems and urine darkens in light. |
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lead poisoning affects what part of heme synthesis?
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(1) ALA dehydratase (requires zinc)
(2) ferrochelatase |
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rate-limiting enzyme in heme synthesis?
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ALA synthase
inhibited by heme itself and glucose. activated by hypoxia, EtOH, and barbiturates. |
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Why does systemic HTN develop in more than 50% of sleep apnea patients?
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reduced ventilation causes hypercarbia and hypoxemia. hypercarbia tells brain that we are not breathing and turns on SANS stimulation. chronically elevated plasma levels of NE from SANS stimulation will cause systemic HTN. obesity also plays a role.
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chronic hypoxemia causes reflexive pulmonary vasoconstriction. If untreated, this can lead to pulmonary HTN and R heart failure.
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what test should be routinely performed in patients taking lithium or amiodorone?
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TFT's (thyroid function tests)
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L3 dermatome?
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anterior thigh (femoral nerve)
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patellar tendon reflex tests?
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L4
mainly integrity of femoral nerve which contains roots L2-L4 and is responsible for extension of the knee. |
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achilles tendon reflex tests?
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S1
mainly integrity of tibial nerve which contains roots L4-S3 and is responsible for plantar flexion. |
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tibial nerve innervates?
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it is the larger of the two components fo the sciatic nerve.
it innervates the posterior compartment of the LEG and the plantar foot. A lesion may cause motor loss of plantar flexion, toe flexion and weakened inversion. Altered sensation in the posterior LEG and plantar foot. plantar flexion tested by achilles tendon reflex. |
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sciatic nerve is composed of?
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the larger tibial nerve (L4-S3) and common fibular (L4-S2)
sciatic nerve lesions most commonly involve roots L5 or S1. sciatic nerve symptoms with weak achilles tendon reflex means S1 root of the tibial portion is affected. |
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S1 dermatome?
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posterior thigh and leg, lateral foot including small toe.
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mixed tibial and common peroneal nerve
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L5 dermatome?
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anterior leg, dorsum of foot (exculding big toe and small toe), plantar surface of foot (but excluding the medial and lateral sides which are L4 and S1).
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mixed tibial and common peroneal nerve.
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the common fibular nerve innervates?
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muscles of the anterior compartment of the LEG and dorsum of the foot including toes (responsible for dorsiflexion) and the lateral compartment of the LEG (responsible for eversion)
passes around the fibular head where it is most vulnerable to injury. causes foot drop. |
Deep branch = Dorsiflexion and feeling DEEP between the toes
Superficial branch = mainly Sensation (but also eversion) |
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femoral nerve innervates?
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the anterior compartment of the THIGH (which are largely extensors of the knee) and tested by patellar tendon reflex (L4). the medial compartment of the LEG to the malleolus (does not include toes!).
Also SENSATION to the outer thigh (lateral thigh) but does NOT innervate lateral thigh MUSCLES! |
obturator does sensation to the medial thigh.
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obturator nerve innervates?
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medial thigh
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L1 dermatome?
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inguinal ligament
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dermatome deep between the first and second toe?
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L5
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blood supply to the anterior compartment of the arm?
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brachial artery
begins at inferior border of teres major and ends in a bifurcation at the cubital fossa. |
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innervation of MUSCLES in the anterior compartment of the arm?
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musculocutaneous nerve
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musculocuaneous n also provides lateral forearm sensation.
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movements of the anterior compartment of the ARM?
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primarily flexors of the forearm at the elbow.
secondarily flexors of the arm at the shoulder (biceps and corachobrachialis) supinates FLEXED forearm (biceps only) |
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innervation of the radial nerve?
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posterior arm and posterior forearm muscles, supinator muscles (which are posterior compartment muscles), and the extensor muscles of the wrist and fingers.
cutaneous sensory innervation from the posterior arm to the radial dorsum of the hand (excluding finger tips and last 1.5 fingers). |
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blood supply to posterior compartment of arm?
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deep artery (profunda brachii)
this is a branch off the brachial artery and runs with the radial nerve around the humeral shaft. |
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movement of posterior compartment of arm?
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largely extensors of the forearm at the elbow.
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innervation of the anterior compartment of FOREarm? (includes wrist and finger flexors, and forearm pronators.)
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median nerve and ulnar nerve
median nerve innervates all except: 1) flexor carpi ulnaris 2) ulnar half of the flexor digitorum profundus muscles |
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ulnar nerve innervation?
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1) flexor carpi ulnaris muscle
2) ulnar half of the flexor digitorum profundus muscle in the anterior forearm 3) most of the intrinsic hand muslces (all of the interossei, hypothenar muscles, two lumbricals, and the adductor pollicis. |
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C6 dermatome?
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lateral arm and lateral FOREarm to thumb.
tested by biceps tendon reflex. |
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C7 dermatome
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triceps, posterior FOREarm, index and middle finger.
tested by triceps tendon reflex. |
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C8 dermatome
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medial arm, medial forearm, ring and little fingers
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T1 dermatome
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starts under clavicle on and includes medial portion of anterior arm and medial portion of anterior forearm.
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C5 dermatome
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clavicles to lateral portion of anterior arm and lateral portion of anterior forearm.
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C2 dermatome
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think skull cap
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C3 dermatome
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think a turtle neck
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C4 dermatome
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think a regular collared shirt
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T4 dermatome
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level of nipples
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T10 dermatome
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level of umbilicus
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S2, S3, S4 dermatome
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perinium and external genitilia
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axillary nerve innervates?
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lateral arm deltoid, teres minor, and much of the skin on the shoulder. injured by fractures to the surgical neck of the humerus or dislocation of the humerus.
weakness of abduction at the shoulder and parasthesia to the skin on the shoulder. |
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SITS muscles names and function?
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suprspinatus=abducts shoulder first 20 degrees (deltoid does remaining 100 degrees)
infraspinatus and teres minor=laterally rotates arm at shoulder subscapularis=medially rotates arm at shoulder and adducts it. |
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long thoracic nerve innervates?
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serratus anterior
this nerve runs with lateral thoracic artery. lesion causes winged scapula. |
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thoracodorsal nerve innervates?
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latissimus dorsi
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biceps tendon reflex tests?
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C6 root
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triceps tendon reflex tests?
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C7 root.
Lesions are often caused by cervical spondylosis or herniation fo C6/C7 disc. |
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innervation of the tongue?
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taste: CN 7, 9, 10
pain: CN V3, 9, 10 motor: CN 12 |
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anterior 2/3 of tongue derived from what branchial arch?
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1
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posterior 1/3 of tongue derived from whaat branchial arch?
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3 and 4
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1st branchial arch contributes to what parts of the ear? 1st branchial cleft? 1st branchial membrane? 1st branchial pouch?
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arch:Malleus, tensor tyMPani (v3)
cleft: external auditory meatus membrane: tympanic membrane pouch: endoderm-lined structures of ear (middle ear cavity, eustachian tube, mastoid air cells) |
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2nd branchial arch contributes to what part of the ear?
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Stapes, Stapedius muscle (CN 7)
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Fate of the 2nd through 4th branchial clefts?
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temporary cervical sinuses later obliterated by proliferation of the 2nd ARCH mesenchyme
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Branchial arch 3 derivitives?
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styloPHARYNGEUS innervated by glossoPHARYNGEAL nerve.
also greater horn of hyoid. |
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Branchial arch 2 derivitives?
Hint: think 'S' |
Stapes, Styloid process, Stylohyoid ligament, Stapedius, Stylohyoid, CN 7
non 'S' elements: lesser horn of hyoid, muscles of facial expression, posterior belly of digastric |
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Branchial arch 1 derivitives?
Hint: think 'M' |
Meckel's cartilage, Mandible, Malleus, sphenoMandibular ligament, Muscles of Mastication, Mylohyoid, tensor tyMpani
other: incus, anterior belly of digastric, tensor veli palatini, anterior 2/3 of tongue CN V2 and V3 |
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Branchial apparatus is endoderm, mesoderm or ectoderm?
Hint: think CAP covers from outside to inside |
Clefts: ectoderm
Arches: mesoderm Pouches: endoderm bones are from NCC's |
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Derivitive of 2nd branchial pouch?
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palitine tonsils
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Derivitive of 3rd branchial pouch?
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inferior parathyroids (dorsal wings)
thymus (ventral wings) |
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Derivitive of 4th branchial pouch?
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superior parathyroids
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thyroglossal duct cyst vs. branchial cyst
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thyroglossal duct cysts are midline and will move with swallowing.
branchial cysts are lateral and do not move upon swallowing. |
thyroid arises from primitive pharynx and descends into neck. It is connected to the tongue by the thyroglossal duch which normally disappears. Foramen cecum is normal remnant of the thyroglossal duct. Most common ectopic thyroid tissue site is the tongue.
branchial cysts are from a persistant pharyngeal clefts (clefts 2-4) that are not obliterated by 2nd ARCH mesenchyme. aka cervical sinuses. |
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Mainstay therapy for acute manic episodes?
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a mood stabilizing agent (lithium, valproate, or caramazepine)
plus an atypical antipsychotic (olanzapine) |
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Adverse effects of lithium?
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hypOthyroidism, nephrogenic diabetes insipidus, neuromuscular excitability, and cardiac conduction defects
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Anti-convulsant in pregnancy?
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Phenobarbital not phenytoin!
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Pathogenesis of C. difficile?
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1) toxin A (enterotoxin) - a neutrophil chemoattractant leading to mucosal inflammation, loss of water into the gut lumen (producing diarrhea) and mucosal death.
2) toxing b (cytotoxin) - causes actin depolymerization, loss of cellular cytoskeleton integrity, cell death and mucosal necrosis. |
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great saphenous vein runs medially or laterally?
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medially to drain into femoral vein.
small saphenous vein travels laterally to drain into the popliteal vein. |
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pulse seen in aortic stenosis?
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pulsus parvus - low magnitude pulse with a delayed peak
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origin of anterior pituatary?
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Rathke's pouch - an evagination from the fetal oral ectoderm
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often forms a craniopharyngioma - calcified cystic mass that can cause HA's, bitemporal hemianopia, and growth failure
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origin of the posterior pituatary?
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neuroectoderm
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"spike and dome" appearing deposits in the glomerulus?
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membranous glomerulonephropathy - granular deposits of IgG and C3 between the BM and epithelial cells.
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Significantly reduces morbidity and mortality in Class III/IV heart failure patients?
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Spironolactone because of aldosterone inhibition. ACE inhibitors and AG II inhibitors may have similar effect since there is less aldosterone around.
Aldosterone has been shown to cause heart remodeling and worsen left ventricular dysfunction. |
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a Fat Granny and an old Cron Skipping down a Cobblestone road away from the Wreck
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creeping FAT
non-caseating GRANulomas Crohn's dz Skip lesions (transmural) Cobblestone mucosa Rectal sparing |
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S3 heart sound?
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sound of volume overload heard in left heart failure.
a normal variant in children! |
heard best with bell of steth. easier to hear in left decubitus position and when patient exhales.
less audible when there is decreased preload (valsava maneuver, standing, or anxiety) bc there is less volume overload. |
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secretory proteins, membrane-bound proteins, and lysosomal proteins are synthesized by?
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ribosomes attached to the RER.
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cytosolic proteins are synthesized by?
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free ribosomes
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includes proteins used by cellular organelles.
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triad of (1) HTN (2) proteinuria (3) edema defines?d
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pre-eclampsia of pregnancy. typically less than 10% of pregnancies with onset typically after the 20th week of gestation.
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cause is unknown but hypoxic placenta releasing inflammatory factors that injure the endothelium is thought to contribute.
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HELLP syndrome
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pre-eclampsia that progresses to hemolytic anemia, elevated liver enzymes, and low platelets
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classic triad of Reiter's syndrome?
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1) non-gonococcal urethritis or GI infection
2) conjunctivitis 3) arthritis this is a form of reactive seroNEGATIVE arthritis several weeks post GU/GI infection. 20% can develop skin lesions and 20% can lead to sacroilitis. |
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tarry stool and fatigue most classically seen with what chemo agent?
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alkylating agents but with any agent affecting rapidly dividing cells
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abdominal pain and jaundice seen with what chemo agent?
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mercaptopurine (s-phase purine analogue) that can cause cholestasis and hepatitis
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chronic methotrexate use for anti-inflammatory purposes in rhematoid arthritis can lead to?
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cirrhosis
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cardiac tamponade vs. tension pneumothorax vs. hemothorax?
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cardiac tamponade - muffled HEART sounds, pulsus paradoxus
tension pneumothorax - absent BREATH sounds, hyperresonance to percussion hemothorax - absent BREATH sounds, DULLness to percussion |
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short acting insulins?
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Lispro, Aspart
Onset of action < 15 minutes with peak between 30-90 min |
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intermediate insulins?
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NPH, Lente
Twice daily dosing necessary |
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long-acting insulins?
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Ultralente aka Glargine
no peak, lasts 24 hours so once daily dosing |
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graph of competitive antagonist drug
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parrallel bc acts on same receptors with decreased potency (ED 50)
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graph of partial agonist drug?
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parrallel bc acts on same receptors but with decreased maximal efficacy.
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graph of non-competitive drugs?
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non-parrallel bc acts on different receptors. decreased maximal efficacy.
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single most important risk factor for intimal tears?
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HTN
intimal tears lead to dissecting aneurysms. |
aortic dissections also seen with cystic medial degeneration (seen in Marfan's) but relatively RARE.
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VOMITS pathway?
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valine
odd-chain fatty acids methionine isoleucine threonine serine B12 required for metabolism of all. Folate needed for metabolism of some too. |
leucine is also metabolized by this pathway but does not require B12 bc it is directly converted to acetyl CoA and enters the TCA cycle.
Cysteine is made by this pathway from homocysteine and serine via cystathionine synthase. |
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what makes nafcillin, methicillin, oxacillin, and dicloxacillin beta-lactamase resistant?
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bulkier R group
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treatment for gonorrhea? chlamydia?
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gonorrhea - single IM dose of ceftriaxone
chlamydia - single dose of azithromycin or multiple doses of doxycylcine |
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what kind of fluid is lost in diarrhea and GI hemorrhage?
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isoosmotic fluid
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what type of fluid is lost in diabetes insipidus and profuse sweating?
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mainly water so hypotonic fluid
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what underlies hereditary hypothalamic diabetes insipidus?
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point mutation of neurophysin II (carrier protein for oxytocin and vasopressin from their cell bodies of the paraventricular and supraoptic nuclei of the hypothalamus to the posterior pituatary).
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mutation in the ATM gene?
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Encodes a protein kinase needed in DNA repair signaling and causes Ataxia-Telangiectasia. Autosomal recessive. Causes thymic hypoplasia, decreased serum IgA, recurrent RESPIRATORY infections, hypoplastic ovaries and NORMAL calcium.
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often confused with DiGeorge's in which there is DECREASED calcium (bc no development of parathyroid), recurrent viral and fungal infections due to decreased T-cell development.
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dimorphic fungi with broad based budding?
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Blastomycosis - infection spread via aerosolized fungus from environment (often rotting wood). Most are asympotomatic and the remainder get pulmonary symptoms and granulomas. Can disseminate to skin and bones in the immunocompromised.
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dimorphic fungi from bird/bat droppings that causes pneumonia-like symptoms?
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histoplasma - similar to TB in that cavitary lesions tend to calcify. Found as tiny intracellular yeast inside macrophages.
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fetal hydronephrosis vs. antenatal hydronephrosis?
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fetal - most commonly due to inadequate canalization of the UTEROPELVIC junction (between the kidney and the ureter) by the 8-10th week of gestation when the kidney starts making urine.
antenatal hydronephrosis due to many things including obstruction of renal calices/ureters, inadequate development of vesicoureteral junction, and defect in urethral valve. |
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cause of idiopathic primary pulmonary HTN?
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endothelial dysfunction due to decreased production of NO and prostacyclin. also increased wall thickness secondary to impaired apoptosis plays a role.
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treatment for bleeding from warfarin anticoagulation?
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fresh frozen plasma and vitamin k. plasma provides rapid reversal while vitamin k takes time to work bc it only affects newly synthesized clotting factors.
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monitored by PT
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protamine is treatment for?
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heparin reversal - chemically inactivates it
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treatment for bleeding due to plasminogen activators?
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inhibition via aminocaproic acid.
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why is amphotericin B nicknamed "amphoterrible?"
|
Notorious for renal toxicity
1) renal vasoconstriction - decr GFR 2) tubular necrosis that causes electrolyte disturbances (esp hypomagnesemia and hypokalemia) therefore majority of patients are supplemented with magnesium and potassium 3) decreased EPO leading to anemia **hydration and liposomal amphoterecin reduces toxicity |
used for treatment of systemic mycosis. binds ergosterol and forms holes causing leakage of electrolytes and eventual fungal death
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which organs are most and least susceptible to infarction from thromboembolism?
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brain>heart>kidney>spleen>liver
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brain damage is irreversible with in 5 minutes. spleen is less susceptible bc it has lots of collaterals. the liver has a dual blood supply .
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An F508 deletion results in?
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cystic fibrosis-it is a phenylalanine deletion which causes abnml protein folding and failure of glycosylation (examples of post-translational processing) of the CFTR gene transcript causing it to be degraded before it reaches the cell surface. There is a COMPLETE ABSENCE of the CFTR protein from the apical membrane of exocrine duct cells.
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contraindicated drug for depression or smoking cessation if pt has pre-existing seizure disorder, anorexia or bulimia?
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Bupropion
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What kind of disease does Candida cause in most?
|
Localized dz such as (1) oral thrush (2) vulvovaginal candidiasis (3) cutaneous candidiasis (from heat/high humidity as in dishwasher's hands and diaper rash). T-cells prevent SUPERFICIAL candida infections that cause these localized manifestations.
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Can cause disseminated dz in any organ system if immunocompromised but localized dz more common. NEUTROPHILS prevent hematoenous spread of candida to prevent dissemination.
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sulfonamide MOA?
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inhibits dihydropteroate syntase which is important in folic acid and thymidine synthesis
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similarity btn trimethoprim, methotrexate, and pyrimethamine?
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All inhibit dihydrofolate reductase which interferes with folic acid synthesis (TMP for bacteria, methotrexate for humans, pyrimethamine for parasites)
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used with sulfonamides bc the two have similar half-lives but inhibit dfferent steps in DNA replication
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what heart anomaly causes differential cyanosis versus differential blood pressure?
|
PDA with LATE-ONSET shunt reversal causes differential cyanosis
versus adult type coarctation of the aorta which causes differential pressures and limits lower extremeity exercise tolerance but does NOT cause cyanosis |
Infantile type coarctation of the aorta (assoc with PDA) causes lower body cyanois and early-onset heart failure.
WHOLE body cyanosis occurs in pts with septal defects that have shunt reversal or pts with TOF. |
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viridans strep produces dextrans that adhere to?
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fibrin - fibrin platelets are deposited at sites of endothelial trauma so pre-existing valve damage is required for adherence to heart valve cusps (process referred to as SUBacute bacterial endocarditis).
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S. aureus is more aggressive and can adhere to intact endothelium (process referred to as ACUTE endocarditis)
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what lies btn the trachea and the vertebral bodies?
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esophagus
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what increases power (power=1-beta)
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increased sample size
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hint: power in numbers
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important toxicity associated with halogenated anesthetics (halothane, enflurane, isoflurane, and sevoflurane)?
|
fatal hepatitis approximately 1-2 weeks post exposure. Halothane (extensively metabolized in the liver) metabolites cause direct injury to the liver and formation of autoantibodies against liver proteins --> massive centrilobular necrosis.
Symptoms include liver tenderness, hepatomegaly and increased LFT's (with mortality up to 80%) |
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Reye syndrome causes what type of change in the liver?
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microvesicular fatty change
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intrahepatic cholestasis is the hallmark for?
|
biliary duct obstruction (seen in primary sclerosing cholangitis and primary biliary cirrhosis)
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Recombinant receptor that binds TNF?
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Etanercept. Particularly useful in methotrexate resistant RA. Serious side effect is reactivation of latent TB so all pats beginning treatment should have a baseline PPD.
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post-exposure prophylactic treatment of meningococcal meningitis?
|
rifampin (also used for HiB contacts). Give with 3rd generation cephalosporin to eliminate nasal carriage.
|
Use penicillin to treat active infections.
Vaccination is important in large populations but not useful in post-exposure status since most common strains are poorly immunogenic due to polysaccharide capsule. |
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when is an aortic regurgitation murmur best heard?
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When the patient sits up and leans forward.
It is loudest at the very BEGNINNING of DIASTOLE when the pressure btn the left ventricle and aorta are highest. |
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Stomach ulcers are most likely to be found in the?
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Lesser curvature of the stomach bc this is the transitional zone btn the Acid-secreting Body & the gastrin-secreting antrum.
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What arteries supply the lesser curvature of the stomach? They are tributaries from which main artery?
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left and right gastric arteries - both are from the main celiac trunk.
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celiac gives off three direct branches:
(1) left gastric (2) splenic (3) common hepatic The common hepatic further divides into the hepatic proper artery which gives off a gastroduodenal artery and the RIGHT GASTRIC artery. The gastroduodenal artery branches into the right epiploic artery and the pancreaticoduodenal artery. |
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A MICROTUBULE-associated protein that facilitates anterograde transport in neurons?
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kinesin - it is ATP powered
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ACTIN-associated protein that are apical plasma membrane extensions?
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microvilli
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PVT TIM HALL always argues, never tires = ?
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essential AA's --> phenylalanine, valine, tryptophan (never tires = never tyrosine), threonine, isoleucine, methionine, histidine, arginine (always argues = always arginine), leucine and lysine
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Three Ice Tripped Tye Forward = ?
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glucogenic and ketogenic --> threonine, isoleucine, tryptophan, tyrosine, phenylalanine
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strictly ketogenic AA's?
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leucine and lysine
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Collagen synthesis steps that take place INSIDE fibroblasts?
|
1) alpha chain synthesis in Gly-X-Y sequence (preprocollagen)
2) hydroxylation of proline and lysine residues (X and Y part of sequence) (3)Glycosylation of hydroxyLYSINE's. (4) Disulfide bond formation at C-terminus which connects 3 alpha-chains to form triple helix (SOLUBLE procollagen) |
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Defective hydroxylation of proline residues during collagen synthesis causes?
|
degradation of alpha chains (aka preprocollagen)
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defective hydroxylation of lysine residues during collagen synthesis?
|
leads to defective cross-linking of tropocollagen outside of fibroblasts --> decreased tensile strength
|
seen in aging
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what makes procollagen soluble?
|
disulfide bond at C-terminus
|
procollagen disulfide bonds are cleaved (once they are outside of the fibroblasts) to form tropocollagen.
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what dz is caused by defective disulfide bond cleavage during collagen synthesis?
|
Ehlers Danlos - procollagen solubilizes into the extracellular space and cannot be converted to INSOLUBLE tropocollagen without disulfide bond cleavage of the C-terminus. The last step of cross-linking tropocollagen strands via hydroxylysines is also inhibited as a result.
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presentation of classic homocysteinuria?
|
thromboemoblic dz including vessels in brain and Marfan-like abnormalities (ectopia lentic, elongated limbs, etc).
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classic homocysteinuria patients respond dramatically to what Rx?
|
vitamin B6 supplementation
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pathogenesis and histo of dermatitis herpetiformis?
|
pathogenesis - IgA and IgG antibodies against gliadin cross-react with reticulin in epidermal BM
histo - microabscesses in DERMAL papillae tips with overlying basal cells becoming vacuolated and blistering. |
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what is erythema multiforme?
|
spectrum of lesions on limbs/extremeties especially the palms.
MCC is herpes simplex but also commonly from drugs and pathogens |
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carcinoid tumors are derived from?
|
enterochromaffin cells (endocrine cells) of the GI. most commonly the ileum, then the appendix and the rectum.
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antibodies against M. pneumonia cell membrane antigens that cross react with RBC membranes are called?
|
cold agglutinins bc they can agglutinate RBCs in vitro at low temps
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drug that blocks HIV gp41 to prevent conformational change needed to fuse with CD4 cells or macrophages?
|
enfuvirtide
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|
curling ulcers vs. cushing ulcers
|
curling ulcers - found in the proximal duodenum ONLY; from severe trauma or burns; they are basically acute stress ulcers resulting from impaired oxygenation
cushing ulcers - found in the esophagus, stomach or duodenum; from high intracranial pressure; due to intracranial pressure causing direct stimulation of vagus n. which leads to hypersecretion of gastric acid |
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MOA of "setron" drugs?
|
1) blocks vagus-mediated 5HT3 receptors that when stimulated, promote activity of the area prostrema
2) directly block 5HT3 serotonin R's found in the area postrema |
area postrema located in the DORSAL medulla near the _____ ventricle
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Is catalase positivity the only requirement for opportunistic infections in CGD patients?
|
NO
CGD pts are at increased risk for the following catalase pos MO's: S. aureus Pseudomonas cepacia Serratia marcescens Nocardia Aspergillus BUT NOT at risk for the following catalase pos MO's: M. tuberculosis Cryptococcus neoformans Cornyebacterium diptheriae |
catalase positivity is necessary but NOT sufficient for unknown reason.
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antidote for beta blocker poisoning?
|
glucagon
|
increases intracellular cAMP and cardiac contractility
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Rx for opioid intoxication
|
naloxone, naltrexone, and nalmefene
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NAC useful in treatment of what 3 things?
|
1) acetaminophen OD by acting as a glutathione donor that helps to neutralize some of the excess free radical damage
2) as a mucolytic agent in pts with influenza, bronchitis and CF 3) prevents radiocontrast induced nephropathy in renal insufficient pts that need an IV contrast CT |
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Increased cAMP mediated bronchodilation via what drug?
|
theophylline which is a methylzanthine. limited use due to small therapeutic window.
low doses cause caffeine like arousal and insomnia. toxicity causes abdominal pain, n/v/d, cardiac arrhythmias and SEIZURES. seizures are the major cause of morbidity and mortality. tacchyarrhythmias are less worrisome bc do not cause QT prolongation. |
inhibits phosphodiesterase to increase cAMP.
caffeine works similarly. |
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antidote for methylxanthine tox?
|
activated charcoal to reduce absorption. beta blockers for tachy. benzos for seizures.
|
theophylline is a methylxanthine
|
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|
can T4 be converted to T3?
|
yes can be converted to active T3 or inactive rT3.
T3 is responsible for negative feedback on ant. pituatary to decrease TSH. |
T3 cannot be converted to T4.
T4 has the longest half life of 7 days while T3 and rT3 have half-lives of 1 day and less than 1 day. All of these hormones are cleared by glucoronidation in liver. |
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SSSS vs. impetigo/folliculitis/furuncles/carbuncles/abscesses
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staphylococcal scalded skin syndrome is due to prodxn of EXOtoxin called exfoliatin that acts as a protease and CLEAVES DESMOGLEIN in desmosomes. Causes blistering specific to superficial epidermis that shows a positive Nikolsky's sign. Not fatal unless lesions become secondarily infected.
The other staph infections are from the pathogen INVADING the skin not circulating exotoxin. |
Bullous impetigo - more localized form of SSSS
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Proinsulin within membrane enclosed Golgi organelle is cleaved by convertases into?
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insulin, C-peptide and 2 pairs of AA's.
insulin and C-peptide are packaged together into secretory granules which fuse with the PM and eventually release into the x-cellular space intact and in EQUImolar concentrations. |
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why does tumor lysis syndrome causes uric acid to precipitate and form crystals that obstruct the distal tubules and colliecting ducts?
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uric acid (released by cell lysis) is SOLUBLE at normal pH's but precipitates in acidic environments. The lowest pH's of the nephron are in the distal tubules and collecting ducts.
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syndrome can be reduced by urine alkalinization and hydration. hydration creates a high urine flow rate that helps prevent uric acid precipitation.
allopurinol also helps. |
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Where does ammonia that is usually detoxified by the liver come from?
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GI enterocye catabolism of glutamine and bacterial catabolism (in colon) of dietary protein.
Stressors like hypovolemia or GI bleeding can increase normal gut absorption of ammonia to overwhelm liver's detox fxn. |
Also damaged liver has reduced ability to detoxify ammonia so it accumulates in the blood.
Excess ammonia in any case potentiates GABA Rs in the CNS --> inhibitory neuro transmission ---> hepatic encephalopathy (reversible decline in neuro fxn) |
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A way to lower ammonia levels in hepatic encephalopathies?
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disaccharidase such as lactulose - acted on by bacteria to acidify colonic contents. low pH converts neutral NH3 to charged version NH4+ so that it cannot cross membrane and be reabsorbed.
other treatments: phenylbutyrate or benzoate |
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Ordinarily Careless / Crappers Are / Also / frivolous About Urination
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ornithine + carbamoyl phosphate -->
citrulline + aspartate --> arginosuccinate (minus fumarate as by-product) --> arginine (minus ornithine as by product which starts cycle over) --> urea |
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most common NHL in adults?
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follicular lymphoma of B-cells - t(14;18) - shows AGGREGATES of packed follicles that obscure/efface normal lymph node architecture.
indolent course but difficult to cure. |
versus Burkitt's which shows a DIFFUSE population of lymphocytes (starry sky) - will not see aggregated proliferating follicles
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