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16 Cards in this Set

  • Front
  • Back
Turner syndrome manifestations
-primary amenorrhea, high arched palate, and widely spaced nipples are characteristic manifestations of Turner syndrome

-an additional characteristic finding is OVARIAN DYSGENESIS, which manifests as "streak gonads"
Bartonella henselae
-Bartonella henselae causes cat-scratch disease --> fever/lymphadenopathy (self-limited)

-organism resides in oral cavity of cats – transmitted to humans by cat scratches and bites

-Bartonella henselae can also cause bacillary angiomatosis (BA) in immunocompromised patients, with red-purple papular skin lesions.

--these vascular proliferations may also be found within the viscera

--bacillary angiomatosis can be fatal if left untreated

-Lastly, Bartonella henselae can cause culture-negative endocarditis
Toxic shock syndrome
-toxic shock syndrome (TSS) is caused by Staphylococcus aureus

-patients present with fever, vomiting diarrhea, desquamation, and hypotension
Hemolytic uremic syndrome
-hemolytic uremic syndrome is triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency CAUSED BY E.COLI O157:H7
Malignant otitis externa
-pseudomonas aeruginosa can cause malignant otitis externa in individuals using contaminated pools and hot tubs
Reactive arthritis
-reactive arthritis is a type of HLA-B27-positive reactive arthritis classically accompanied by urethritis and conjunctivitis

-reactive arthritis is associated with Chlamydia, Shigella, Salmonella, Yersinia, and Campylobacter infections
Condylomata acuminata
-condylomata acuminata = genital warts

--caused by human papillomavirus (HPV), type 6 and 11

--condylomata acuminata presents as soft, tan, cauliflower-like masses on penis, vulva, and peri-anal areas
Femoral neck fracture
Femoral neck fracture
-a femoral neck fracture can damage the blood supply to the femoral head and neck

--most common with displaced fractures

--the MEDIAL FEMORAL CIRCUMFLEX ARTERY provides majority of blood supply to femoral head and neck

--injury to this ve...
-a femoral neck fracture can damage the blood supply to the femoral head and neck

--most common with displaced fractures

--the MEDIAL FEMORAL CIRCUMFLEX ARTERY provides majority of blood supply to femoral head and neck

--injury to this vessel can cause avascular necrosis of the femoral head
Chediak-Higashi syndrome
-AR disorder of neutrophil phagosome-lysosome fusion

-results in neurologic abnormalities, PARTIAL ALBINISM, and an immunodeficiency caused by defective neutrophil function

-Ched – head problems (neurologic)
-Hi-gosh you're white (albinism)
GI embryo
-abnormal rotation and fixation of midgut early during fetal life results in intestinal malrotation

-two main manifestations of this condition are intestinal obstruction (due to compression by the adhesive bands) and midgut volvulus (intestinal ischemia due to twisting of vessels).
Eosinophils
Eosinophils
-late phase of an atopic asthma attack involves mucosal infiltration by eosinophils, basophils, and neutrophils

-eosinphils have biloped nuclei, and are backed with large eosinophilic (pink) granules of relatively uniform size

-eosinophils a...
-late phase of an atopic asthma attack involves mucosal infiltration by eosinophils, basophils, and neutrophils

-eosinphils have biloped nuclei, and are backed with large eosinophilic (pink) granules of relatively uniform size

-eosinophils also release MAJOR BASIC PROTEIN, a potent ANTI-HELMINTHIC toxin capable of damaging human epithelial and endothelial cells.

-vs. neutrophils tend to have multilobed (more than 3) nuclei and stain relatively pale

-vs. basophils contain granules that stain dark blue, are irregularly sized, and usually obscure the nucleus.
Blood transfusion and calcium chelation
-normal serum calcium level is 8.4-10.2 mg/dL

-patients who receive equivalent of more than one body blood volume (5-6 liters) of whole blood transfusions or packed red cells over period of 24 hours may develop elevated plasma levels of CITRATE (a substance added to stored blood).

-citrate chelates calcium and magnesium, and may reduce their plasma levels, causing paresthesias
Normal sorbitol metabolism
-aldose reductase converts glucose into sorbitol, which is further metabolized into FRUCTOSE by sorbitol dehydrogenase

-this pathway is most active in the seminal vesicles, because sperm use fructose as their primary energy source

-other tissues that have sorbitol dehydrogenase activity include retina, renal papilla, and Schwann cells, but these have much less sorbitol dehydrogenase activity

-
Sorbitol dehydrogenase in the lens
-human lens has significant levels of sorbitol dehydrogenase, which allows for production of fructose

-however, this enzyme has much lower Vmax in sorbitol-to-fructose direction than in reverse direction

-when glucose levels are low, the limited forward activity of this enzyme is sufficient to convert enough sorbitorl into fructose to prevent sorbitol accumulation

--but long-standing hyperglycemia can lead to production of excessive amounts of sorbitol that is trapped in cells

--this leads to increased osmotic pressure, facilitating influx of water into lens cells, causing lens degeneration

--> lens opacification and cataract formation
Lipoic acid
-lipoic acid is a cofactor for several mitochondrial enzymes

--pyruvate dehydrogenase  (PDH –deficiency results in lactic acidosis)
--PDH converts pyruvate to acetyl CoA, which can enter the Krebs cycle and be made into citrate by citrate sy...
-lipoic acid is a cofactor for several mitochondrial enzymes

--pyruvate dehydrogenase (PDH –deficiency results in lactic acidosis)
--PDH converts pyruvate to acetyl CoA, which can enter the Krebs cycle and be made into citrate by citrate synthase (first step)

--branched chain ketoacid dehydrogenase (deficiency results in maple syrup urine disease)

--alpha ketoglutarate dehydrogenase
Positive and negative predictive values
-these depend on disease prevalence in population

-vs. sensitivity and specificity of a test do not depend on prevalence of disease in population