Hematuria, flank pain, low-grade fever after upper respiratory infection
IgA nephropathy
Tay-Sachs vs. Niemann-Pick
Niemann-Pick: Hepatosplenomegaly
Lipid laden foamy macrophages
Tay-Sachs: NO hepatosplenomegaly
Nonsense vs. Frameshift
Nonsense: adding a stop codon leading to truncated proteins. Only affects protein translation (NOT RNA transcription)
Frameshift: adding or removing a number of bases not divisible by 3
alter the reading frame and thus the mRNA produced
PRPP synthetase mutation
Leads to increased production and breakdown of purines thus more uric acid–> GOUT
Pyruvate dehydrogenase deficiency
build up of lactate and alanine (via ALT)
tx: lysine and leucine (ketogenic nutrients)
Possible products from pyruvate
Alanine
lactate (using NADH)
Oxaloacetate
Acetyl-CoA
Transamination leads to and requires?
rxn between aa and alpha kept acid
Leads to transfer of N from alanine to Glutamate
moving NH3 from muscle to liver for urea cycle
Requires Pyridoxine (B6)
Biotin rxns
pyruvate carboxylase (pyruvate to oxaloacetate)
Acetyl-CoA carboxylase (acetyl-CoA to malonyl-CoA)
Propionyl-CoA carboxylase (propinyl-CoA to methylmalonyl CoA)
Consequence of high-oxygen affinity Hb
trouble releasing O2 in the peripheral tissues–> renal hypoxia–> increased epo synthesis–> erythrocytosis
DNA polymerase I
5 to 3 exonuclease activity
removes RNA primer
repair damage
DNA polymerase III exonuclease
3 to 5 activity
5 to 3 polymerase
Where does the herpes virus hang out?
In the nucleus of cells
thus envelope is made up of nuclear membrane
Desmopressin MOA
For hemophilia A and vWbrand dz: increases circulating factor VIII and endothelial secretion of vWF to stop bleeding
For CDI and Nocturnal enuresis: binds V2 receptors–> increase aquaporin channels
Von Recklinghausen
NF1
neurofibromas, optic nerve gliomas, lisch nodules (eye), cafe au lait spots
Osler-Weber-Rendu
hereditary hemorrhagic telangiectasis
epistaxis, GI bleed or hematuria
Sturge-Weber
STURGE Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ Epilepsy
Cause of extramedullary hematopoiesis
Chronic hemolytic anemia (Beta thalassemia)
see erythroid precursors in liver and spleen
skin and subcutaneous tissue necrosis after warfarin
protein C deficiency
carcinoid histology
neatly arranged cells in trabecular pattern surrounded by a fibrovascular storm
dense core membrane bound neurosecretory granules
+ chromogranin, synaptophysin, CD57
tx for methanol poisoning
folic acid
Treatment for thyroid storm
Propranolol
PTU
Prednisolone
Relative risk
Cohort study
RR= [a/(a+b)]/[c/(c+d)]
Attributable risk
difference in risk between exposed and not exposed
AR= [a/a+b] - [c/c+d]
ARP=100*(RR-1/RR)
Relative risk reduction
RRR=1-RR
proportion of risk reduction attributable to intervention
Absolute risk reduction (ARR)
ARR=[c/c+d] - [a/a+b]
Number needed to treat
NNT=1/ARR
Hormone levels in Klinefelter syndrome
primary issue: Dysfunctional leydig cells
Decreased T
increased LH and FSH
increased estrogen
small testes and dysgenesis of seminiferous tubules
Nausea and vomiting, headaches, vertical gaze palsy. paplledemia
Pineal mass
increased ICP
Signaling pathway of steroid hormones
- enters cell (lipophilic)
- binds to intracellular receptor
- hormone-receptor complex then undergoes a conformational change (reveal DNA-binding site)
- binds to DNA enhancer elements
Normal sized head and trunk but short limbs
Achondroplasia
defect in FGFR3 (AD)
associated with advanced paternal age
woman with bitemporal hemianopsia and amenorrhea
Prolactinoma
from lactotroph cells
Glucagon target
The liver!!
increases glucose production via glycogenolysis and gluconeogenesis
Glucagonoma
Dermatitis (necrolytic migratory erythema), Diabetes, Diarrhea, anemia
excess Vit. D
hypercalcemia
muscle weakness, constipation, mental status changes
impaired concentration of urine
bone pain
Where is Urea reabsorbed
Mostly in proximal tubule
with ADH also reabsorbed in medullary collecting duct
Desmopressin effect on renal clearance of urea
decreases clearance
increases reabsorption in medullary collecting duct increasing medullary osmotic gradient and leading to more concentrated urine
Pathophys of PAH
BMPR2
dysfunctional endothelial and smooth muscle cell proliferation
THEN vascular remodeling, elevated pulmonary vascular resistance–> progressive pulmonary HTN
Cardiac drug that lengthens QRS duration in a rate-dependent manner
Use-dependent Flecanide (class 1C anti arrhythmic)
Why are reticulocytes blue on wright-giemsa stain?
residual ribosomal RNA
Histology of follicular lymphoma
B cells predominantly centrocytes
packed follicles that obscure normal LN architecture
Causes of folate deficiency
Poor diet (alcoholics and elderly)
Increased demand (hemolytic anemia, pregnancy, cancer)
folate antagonists (methotrexate)
Mutation in polycythemia vera
JAK2
cytoplasmic tyrosine kinase
Li-Fraumeni
mut in p53 Sarcomas breast brain adrenal
MOA Enoxaparin
Binds ATIII
a LMWH
Consequences of Multiple Myeloma
CRAAB hyperCalcemia Renal failure Anemia (normocytic) AL amyloid Bone lytic lesions Back pain
Trastuzumab
inhibits tyrosine kinase
Antibody dependent cytotoxicity
treat HER2+ breast cancer
JAK2 mutation
Polycythemia vera
makes hematopoietic cells more sensitive to growth factors
Microsomal monooxygenase role
cytochrome P450 monooxygenase
found in hepatic microsomes
metabolizes steroids, alcohol and toxins making them easier to excrete
can make pro-carcinogens into carcinogens
HBV life cycle
DNA VIRUS!!
Incorporates into host DNA
can continue to produce HBx protein–> inactivates p53 tumor suppressor gene
effect of carbon tetrachloride
free radical injury
lipid peroxidation
tumor stage
extent of expansion
most important for PROGNOSIS
Tumor grade
degree of tumor differentiation
mitotic figures, aneuploidy and cell differentiation
anaplastic tumors
loss of structural differentiation and function of cells–primative cells of the same tissue
GIANT CELLS
Function of BRCA1 and 2
Tumor supressor gene
DNA repair of dsDNA breaks
Qualitative plt disorders
Uremic plt dysfunction Bernard-soulier syndrome (GpIb) Glanzmann thrombasthenia (GpIIb/IIIa)
localized loss of sensation and positive rhomberg
Medial leminscus (goes to VPL from contralateral dorsal column)
Treatment for supra ventricular tachyarrhythmia
Adenosine
carotid massage
Valsalva maneuver
Type IV Renal tubular acidosis
Caused by hypoaldo
HYPERkalemia (other types of RTA are hypokalemic)
low urine pH because hyperkalemia inhibits ammonia excretion
Painful vesicle on external genitalia with bilateral inguinal adenopathy
Chancroid
Haemophilus ducreyi
tx: Ceftriaxone
Differential for genital ulcers
Primary syphilis (painless)
Herpes (painful)
Chancroid (painful)
Baby with abnormal skull and facial features, growth deficiency, underdeveloped nails, and mild developmental delay
Fetal hydantoin syndrome
due to phenytoin
SE of Phenytoin
Nystagmus diplopia ataxia gingival hyperplasia megaloblastic anemia Fetal hydantoin syndrome steven-johnson osteopenia
Bacitracin MOA
Inhibits peptidoglycan synthesis
prevents transfer of mucopeptides into the growing bacterial cell wall
SE:Nephrotoxicity
Organs effected by ADPKD
LIVER–but usually asymptomatic
Also: cerebral vessels (berry aneurysms)
mitral valve prolapse
cysts in seminal vesicles
what artery runs with the recurrent laryngeal nerve?
R subclavian a.
Matinance dose
MD=Cp x CL/F
Loading dose
LD= Cp x Vd/F
Half life
t=0.7 x Vd/ CL
Tx for metastatic renal cell carcinoma
Recombinant IL-2
aldesleukin
SE of protease inhibitors
Metabolic (lipodystrophy, dyslipidemia, insulin resistance)
Painful abdomen, Port-wine colored urine, polyneuropathy, psychological disturbances
Acute intermittent porphyria
Enzyme: porphobilinogen deaminase
build up of prophobilinogen, delta-ALA, coporphobilinogen
tx: glucose and heme (inhibits ALA synthesis)
TNF alpha
mediates septic shock
activates endothelium
causes WBC recruitment
vascular leak
what innervates the uvula
Vagus nerve! if damage the uvula deviates away from the side of the lesion
also soft palate elevation, swallowing, coughing, talking, aortic arch chemo and baroreceptors
Hereditary sphereocytosis treatment
splenectomy
Isotretinoin
Acne treatment
pregnancy category X
other preg X: Warfarin, Methotrexate, danazol (tx for endometriosis), synthetic progestins
Risks associated with H. pylori infection
Increased risk of duodenal ulcers, gastric carcinoma, B-cell non-Hodgkin gastric lymphoma
MALT
Hyperventilation, tinnitus, abdominal pain, n/v, sweating, dizziness after OD
Aspirin
tx: Bicarb
Function of protein C
cleavage of factor Va and VIIIa
requires vitamin K
Aschoff bodies
Noncaseating granuloma with multinucleate gian cells
Amatoxin target
RNA polymerase II
stops mRNA synthesis
GVH in the liver
T cells infiltrate and destroy small intrahepatic bile ducts
increased Alk phos
Looks like Primary biliary cholangitis
Myocardial thinning and fibrosis
Infiltrative cardiomypoathy (sacroid, amyloid), chagas, myocarditis, prior MI
Differential for ring enhancing lesions with mass effect in HIV pts
Toxo–most common
Primary central nervous system lymphoma (B-cell origin associated with EBV)
Replication of Hep B
partially dsDNA–>dsDNA–>+ssRNA–>makes viral proteins and ssDNA–>dsDNA
Acid fast staining takes advantage of what?
mycolic acid in the cell wall