jan 25 Flashcards
presentation of an acute episode of hereditary angioedema?
- cutaneous swelling (no urticaria or pruritis)
- colicky abdominal pain, vomiting, diarrhea
- laryngospasm, airway obstruction
management of episode or hereditary angioedema?
-C1 inhibitor concentrate, bradykinin antagonist, or kallikrein inhibitor
(most resolve on their own but treat to prevent laryngeal swelling)
first line treatment for pseudotumour cerebri?
acetazolamide
isoniazid is associated with which type of anemia?
aquired sideroblastic (microcytic) anemia due to its anti-pyroxidine effects
causes of microcytic anemia?
iron deficiency
thalasemias
sideroblastic
what type of anemia does thalasemias cause?
microcytic
what may. be increased in someone with iron deficiency anemia?
platelets - a reactive thrombocytosis may occur in response to low red blood cell count
A child <2 years old has a UTI. What is indicated?
antibiotics AND renal/bladder ultrasound
what causes mortality in Friedreichs ataxia?
cardiac dysfunction - hypertrophic cardiomyopathy -> arythmias
presentation of friedreichs ataxia?
-progressive gait ataxia and dysarthria
what age does friedreichs ataxia usually present?
adolescence or young adulthood
path of friedreichs ataxia?
trinucleotide repeat -> loss of function mutation in frataxin -> degeneration of spinal tracts (dorsal columns, spinocerebellar)
what type of lung complication may occur in patients with cirhosis and ascites?
hepatic hydrothorax (pleural effusion)
path of hepatic hydrothorax?
transudative pleural effusion caused by small defects in the diagphram which allow peritineal fluid to pass through
hepatic hydrothorax usually occur on the ___ side
right - due to weaker diaphgram
does crigler-najar result in conjugated or unconjugated hyperbilirubinemia?
UNconjugated
when does galactosemia present?
first few days of life
presentation of galactosemia?
- poor feeding and vomiting
- jaundice, hepatomegaly, cataracts (galactose accumulation)
high galactose may impair…
leukocyte function -> increased risk of E coli sepsis
why are babies with galactosemia at increased risk for E coli sepsis?
the high levels of galactose impair leukocyte defense
what causes the unconjugated hyperbilirubinemia in galactosemia?
galactose accumulation in RBCs -> lysis
lab findings in galactosemia?
- increased bilirubin, AST and ALT
- low glucose
- metabolic acidosis
- urine reducing substance
class I antiarythmics block __ channels
Na
flecainamide is a class …
1C
flecainamide exhibits use dependence T or F
TRUE - higher heart rate -> higher amount of blocked channels -> QRS widening
initial management of uncomplicated lumbosacral radiculopathy (sciatica)?
- activity modification
- NSAIDs
which patients presenting with lumbosacral radiculopathy (sciatica) require MRI?
- those with SIGNIFCANT/progressive or bilateral neurologic defects
- suspected malignany or epidural abcess
how does respiratory alkolosis effect Ca in the blood?
Alkalosis leads to dissociation of H from albumin, leading to an increase in Ca bound albumin -> decreased ionized Ca
which form of ca is active?
ionized calcium
difference between esophageal dysphagia and oropharyngeal dysphagia?
oropharyngeal may have difficulty initiating swallow, coughing, nasal regurgitation whereas esophageal does not
work up for OROPHARYNGEAL dysphagia?
videofluroscopic modified barium swallow
etiology of retinitis pigmentosa?
-genetic mutation -> loss of photoreceptors -> progressive retinal degerenation
when does retinitis pigmentosa present?
symptom onset may start at age 10 and up
clinical features of retinitis pigmentosa?
- night blindness
- progressive visual field loss
- decreased visual acuity
fundoscopy findings of retinitis pigmentosa?
- retinal vessel attenuation
- optic disc pallor
- abnormal retinal pigmentation
the cornea apperas normal in Vit A deficiency TRUE OR FALSe
FALSE - it will appear very dry
clinical manifestations of x-linked agammaglobulinemia?
- recurrent sinopulmonar infections and GI infections
- chronic enterovirus infection
- small of absent lymph tissues
presentation of acute phenytoin toxicity?
Cerebellar dysfunction: horizontal nystagmus, ataxia, dysmetria, slurred speech, etc.
exam findings of acute angle glaucoma?
- conjunctival injection
- corneal edema
- palpable firmness of eyeball
- fixed, mid-dilated pupil
