March 22 Flashcards
Disease that presents with diffuse muscle atrophy, hypotonia, fasciculations and decreased DTR–is due to destruction of the anterior horn cells of the spinal cord..
Werdnig-Hoffmann disease
What enzyme catalyzes the formation of a phosphodiester bond within a strand of dsDNA–Joins Okazaki fragments?
DNA ligase
What ocular muscle is innervated by CN VI?
Lateral Rectus
What ocular muscle is innervated by CN IV?
Superior Oblique
What ocular muscles are innervated by CN III?
Superior rectus
Medial rectus
Inferior rectus
Inferior oblique
What enzyme is deficient in Maple syrup urine disease?
a-ketoacid dehydrogenase–causes increase in a-ketoacids in the blood
- Isoleucine
- Leucine
- Valine
What NT is responsible for REM sleep?
Acetylcholine
Why is hypoglycemia seen with maple syrup urine disease?
Occurs secondary due to impaired gluconeogenesis
Congenital defect causing abdominal contents to enter the thorax is caused by failure of what to completely form?
Failure of Pleuroperitoneal folds/membrane to form
Urachal cyst or sinus if remnant of _____ and forms the ______ ligament?
AllaNtosis
MediaN umbilical ligament
What is used to confirm dx of Acromegaly?
Glucose tolerance test–give glucose and if GH is not suppressed–indicated excess GH that is unresponsive to negative feedback
Also–will have increased IGF-1 and may have pituitary mass on MRI
What NT is elevated with schizophrenia?
DA–in mesolimbic frontal system
What is the classic murmur for mitral stenosis?
Opening snap followed by a late diastolic rumble
What heart defect can cause hoarseness due to compression of the left laryngeal nerve?
Mitral valve stenosis –leading to LA hypertrophy—compression of left laryngeal nerve as it hooks around the aorta at the ligamentum arteriosum –Ortner syndrome
Positive skew distribution =
Asymmetry with longer tail on right–Mean > Median > mode
Negative skew distribution=
Asymmetry with longer tail on left–mean
Put these in order from fastest to slowest conduction velocity – atria, ventricles, AV node, purkinje
Purkinje > atria > ventricles > AV node
What type of Nephritic syndrome is present with SLE?
Diffuse proliferative GN –wire looping (Lupus)
What can prolong the infection time of nontypoidal Salmonella spp infection?
Tx with abx–but do tx typoid with abx
What nerve is effected causing wrist drop and what are the 2 clinical situations in which this can occur?
Radial nerve (C5-T1)–Midshaft fracture of the humerus and compression of the axilla
N-acethlcysteine is used in CF pts in order to…
Helps break up mucus plugs
A mutation in what causes the classical type of Ehlers-Danlos syndrome?
Type V collagen–joint and skin symptoms
A mutation in what causes the vascular type of Ehlers-Danlos syndrome?
Deficient type III collagen–vascular and organ rupture
What is 1st line therapy for HepB infection?
Tenofovir
What is a severe complication of Juvenile idiopathic arthritis?
Blindness due to uveitis
Intraperitoneal accumulation of mutinous material from ovarian or appendices tumor?
Pseudomyxoma peritonei–mucinous cysadenocarcinoma rupture
What 2 complement factors circulate in the blood and cause anaphylaxis?
C5a and C3a
A risk factor for the development of transposition of the great vessels is?
maternal DM
What is Delirium tremens and how is it treated?
Life-threatening ETOH withdrawal syndrome that peaks 2-4 days after last drink
–autonomic hyperactivity
Tx: Benzodiazepines
What branchial arch does the recurrent laryngeal branch originate from?
6th Branchial arch
What muscles originate from the 4th branchial arch?
Pharyngeal constrictors, cricothyroid, and levator veli palatini–muscles for swallowing
Superior laryngeal branch of CN X supplies these muscles
Hyperpigmented neutrophils are seen with what deficiency?
Vit B12–megaloblastic anemia
Also–folate deficiency
What is the pathophys of sarcoidosis?
Dysregulation of CD4+ T-helper (Th) cells –stimulates the production of multiple granuloma promoting cytokines
What type of fracture would raise suspicions of child abuse?
Spiral fracture of long bone
Iodine deficiency includes what symptoms?
MR
Growth delay
Bone age will appear less than the child’s actual age
Where the macular fibers housed within the brain?
Posterior occipital lobe–occipital pole–so when you get macular sparing this is NOT affected –no lose of central vision
What is deficient in neonate with respiratory distress syndrome?
Dipalmitoylphosphatidylcholine –Lecithin component
Factors that increase the amount of _____ increase risk of breast cancer?
Estrogen–early menarche or late menopause
What is the building block for fatty acid synthesis?
Malonyl-coenzyme A
The risk of the development of what after a S. pyogenes infection is reduced with the use of Abx within timely fashion of primary infection?
Rheumatic fever
Why is PTT increased with vWF deficiency?
vWF acts as a carrier of factor VIII
What type of receptor does insulin work through?
Tyrosine kinase receptor
If there is complete occlusion of the anterior spinal artery, what senses are still present?
Proprioception and vibration–because these run through the dorsal column which is fed by the posterior spinal arteries
What disease has a + TRAP (tartrate-resistant acid phosphatase and what sighs and symptoms are seen with this disease?
Hairy cell leukemia–B-cell lymphocyte neoplasms
-Fatigue and easy bruising due to anemia and thrombocytopenia
Patients with DiGeorge syndrome are more susceptible to ____ and ____ due to a _____ deficiency?
Fungal and viral infections
T-cell
What presentation is seen with T-ALL compared to B-ALL?
T-ALL usually presents with thymic mass, which may result in widen mediastinum on CXR.
Shows M spike = Igm –hyperviscosity syndrome with blurred vision and Raynaud phenomenon and has NO CRAB findings, which are seen with multiple myeloma…
Waldenstrom macroglobulinemia
