jdlevenson's version from 2015-06-21 02:09


Question Answer
Drug induced ANCAPTU and METHIMAZOLE and maybe Hydralazine
Mixed cryoglobulinemiaSmall to medium vessel vasculitis caused by circulating immunoglobulin complement complexes that precipitate on refrigeration and is associated with chronic inflammatory states like SLE and HEP C and presents with systemic findings as well as palpable purpura on lower extremities due to cutaneous vasculitis
Restless leg syndrome (irresistible urge to move legs usually accompanied by uncomfortable sensations in the legs; worse at night and exacerbated by rest, relaxation and faling asleep, more common in middle age and older patients and those with iron deficiency, CKD and diabetes) treatment?Dopamine agnonist like pramipexole but first nonpharm interventiosn – limiting alcohol, nicotine, caffeine and eliminating medicines that worsen RLS (glucocorticoids, SSRIs, lithium) and then also may consider iron supplementation, leg massage, warm or cold compresses and regular exercise.
Restless leg syndrome better or worse at nightworse
Restless leg syndrome, before medicationsLimit alcohol, nicotoine, caffeine and medicines that may worsen including SSRIs


Question Answer
Neonate with pupillary dilatation, rhinorrhea, sneezing, nasal stuffiness, diarrhea, nausea and vomiting (within 24-48 hours)Suspect acute opioid withdrawal. Also may have chills, tremors, jittery movements and seizures.
Tincture of opium used forTreating neonatal withdrawal. Within 24-48; rhinorrhea, sneezing, nasal stuffiness and other stuff.
Complications of immaturityRespiratory distress syndrome, PDA, bronchopulmonary dysplasia, intraventricular hemorrhage, necrotizing enterocolitis, retinopathy of prematurity
Neonatal intraventricular hemorrhage/ IVH occurs in fragile germinal matrix increases in frequency withDecreasing age/very pre-term and low birth weight
Neonatal IVH uniquely presents withTense fontanels, prominent scalp veins, and blood in lateral ventricles; can have altered levels of consciousness, hypotonia, decreased spontaneous movements, seizures, decerebrate posturing...
Shaken baby syndrome leads toSubdural hematoma from rupture of cortical bridging veins


Question Answer
Vitamin A overdoseHepatic injury as severe as cirrhosis.
Acute – nausea, vomiting, vertigo, blurred vision
Chronic – alopecia, dry skin, hyperlipidemia, hepatotoxicity, hepatosplenomegaly, visual difficulties; maybe papilledema (suggesting of pseudotumor cerebri/ intracranial HTN)
Teratogenic – microcephaly, cardiac anomalies, fetal death
Question Answer
B12 deficiencypernicious anemia; older mentally slow woman; lemon colored (anemic and icteric); smooth shiny tongue (atrophic glossitis); shuffling broad based gait
Vitamin C overdoseFalse negative stool guaiacs; diarrhea; abdominal bloating; calcium oxalate nephrolithiasis
Vitamin E overdoseHemorrhagic stroke (in adults) and necrotizing enterocolitis (infants)
N-acetylglutamate is essential forActivating Carbomyl Phosphate Synthase I. Formed from Acetyl CoA and Glutamate in N-Acetylglut Synthetase.
Vitamine E deficiency leads toNeuromuscular disease (skeletal myopathy, spinocerebellar ataxia, pigmented retinopathy) and hemolytic anemia. Vitamin E protects cells from oxidation; long neurons and erythrocytes are two most susceptible to oxidation. After axonal degeneration develops, CNS symptoms appear too, such as DC, spinocerebellar, and peripheral nerves.
Vitamin E deficiency symptoms mimicFriedreich ataxia – ataxia, dysarthria, loss of position and vibration sensation.
Anytime you have fat malabsorption or abetalliporpoteinemia- like in CF – need to thinkADEK deficiencies.
Acetylated histones generallyBind less tightly to DNA to allow transcription.
B12 deficiency, what does accumulated methylmalonic acid doMyelin synthesis abnormalities -> damage including subacute, combined degeneration of posterior and lateral spinal columns and sometimes axonal degeneration of peripheral nerves too. Loss of position and vibration sensation, ataxia. SO BOTH MOTOR AND SENSORY
tRNA adds AA at 3 or 5 prime end3 prime.
Urea cycle disorder treatmentsProtein restriction/ balancing protein intake and output. Body should receive only amino acids necessary for growth and development but not in excess such that excessive ammonia is formed.
THB/ B4 is used in making what neurotransmittersTYR and DOPA (on Phe pathway) and Seronin (via tryptophan pathway) and Nitric oxide.
PKU is usually from deficiency in pheny hydroxylase but sometimesDihydrobiopterin reductase deficiency
Glycine is an inhibitory neurotransmitter with primary action inSpinal cord.
Methionine is precursor in synthesis ofCysteine, carnitine, taurine, lecithin.
Which DNA polymerase has 5 to 3 exonuclease activityDNA poly I, which is responsible for removing RNA primer and for exonuclease excision and repair (whereas ENDOnuclease is responsible for nucleotide excision repair during G1)


Question Answer
Dislocated lens, marfanoid habiuts, osteoporosis and intellectual disability and high risk of thromboembolic episodes involving large and small vessels of brain, heart and kidneysHomocystinuria. Thromboembolic episodes are major cause of morbidity and mortality.
Homocystinuria causeUsually deficiency in cystathione synthetase which requires B6 as co-factor.


Question Answer
Loss of peripheral vision and abnormal red circular area of choroid at fovea centralis surrounded by contrasting white macula without hepatosplenomegalyTay-Sachs. Accumulation of GM2 ganglioside and deficient enzyme is B-hexosaminidase A. Tay-Sachs also has macrocephaly (from accumulated glycolipid), hypotonia, loss of motor skills, abnormal startle reflex with acoustic stimuli....
Progressive neurodegeneration can be which lysosomal storage diseases? How to differentiate?Tay Sachs (-> + cherry-red spot in macula and no hepato), Niemann-Pick (-> hepato and cherry-red spot and foam cells) and Krabbe disaes (-> + optic atrophy).


Question Answer
Cataracts + frontal balding, gonadal atrophy, sustained muscle contractionMyotonic dystrophy.
Myotonia defAbnormally slow relaxation of muscles.
Difficulty loosening one’s grip after a hand shake or inability to release door knob?Myotonic muscular dystrophy.
Proximal muscle weakeness and pseudohypertrophy of calvesDuchenne muscular dystrophy.
Friedrich Ataxia, AR, presents in 5-15 year old withPosterior column and spinocerebellar degeneration + loss of larger sensory cells of DRG -> Wide based gait with difficulty maintaining balance. And 1. Progressive ataxia of all 4 limbs, caused by cerebellar dysfunction (from loss of position and vibration via dorsal columns), 2. Hypertrophic Cardiomyopathy, which develops in 50% of patients -> arythmias, CHF and death, 3. Kyphoscoliosis, pes cavus and hammertoes, 4. DM.
Friedrich Ataxia cause of deathCardiomyopathy and bulbar dysfunction (unable to protect airway).
Friedrich ataxia geneticsAR.
SOD1ALS. Copper Zinc super oxide dismutase.
Huntingdon repeats produce huntingtin protein that is GoF or LoFGoF. Leads to pathological interaction with other proteins and partially via deacetylation of histones preventing transcription of things that code for neurotrophic factors.
Most common cause of inherited mental retardationFragile X. Also 2nd most common cause of cognitive mental retardation after Downs. A male that inherits one abnormal X chromosome will always develop the disease whereas a female will have milder presentation because only inherits one copy. X-LINKED**.
MVP, macroorchidismFragile X
Long face, prominent jaw, large ears and cleft palateFragile X
Mild to moderate mental retardation, language delay, autistic behavior, ADHDFragile X
Short height, joint laxity, scliosis, double jointed thumb, single palmar creaseFragile X
Fragile X is a trinucleotide repeat disorder of which geneFMR1 gene on the x chromosome. Increased number of trinucleotide repeats CGG in FMR-1 located on long arm of x chromosome.
Gynecomastia, infertility, small testesKlinefelter. Small, not large. A/w mild mental retardation or normal intelligence.
Short stature, webbed neck, shielded chest, ovarian dysgenesis + primary amenorrhea and mild mental retardationTurner syndrome
Severe acne, tall stature, mild delays in motor and language development with lower IQ and judgment47XYY.
47XXXClinically silent.
Normal external female genitalia with entirely absent mullerian or wolffian ductsTesticular feminization syndrome/ Complete Androgen Insensitivity.


Nervous system and autoimmune:
Question Answer
Weakness is worse at end of day or with exertionMG
Weakness improves during day and with exercise/ proximal musclesLE.
LE only occurs in context ofSCLC.
Perifascicular muscle inflammationDermatomyositis.
Segmental axonal demyelinationGuillain-Barre.
Blotchy red muscle fibers on gomori trichrome stainMitochondrial myopathies. Abnormal mito accumulate under the sarcolemma of muscle fibers. Leading to irregular shape and size on cross section. Known as red ragged fiber diseases. ONLY MATERNAL INHERITANCE.
Myoclonic epilepsy that are short lived and triggered by startle + red muscle fibersMyoclonic Epilepsy with ragged red fibers/ MERRF.
Red ragged fibers + blindnessLeber optic neuropathy.
Red ragged fibers + lactic acidosis and stroke like episodesMELAS. Mito Enceph with SLE and LA.
UWORLD thinks VHL, VRL, NF2, SWS and TS are key.
Question Answer
Bilateral cranial nerve 8 schwannomas and multiple meningiomasNF2.
Café au lait spots, lisch nodules (pigmented nodules of iris), optic nerve gliomas, neurofibromas, i.e. a bunch of peripheral nerve tumorsVRH; NF1. AD.
NF 1 codes () protein whereas NF 2 codes () proteinNF1 codes neurofibromin whereas NF2 codes protein merlin. Both are tumor suppressor genes.
V1 and V2 facial angiomaSturge-weber syndrome.
Tram track calcifiactions, v1, v2 angioma, leptomeningeal angiom, mental retardation, seizures, hemiplegia,...., early onset glaucomaSturge-Weber. Non-inherited/ somatic. Neural crest cells from activating mutation
STURGE-WeberSporadic, port-wine Stain; Tram track calcifications (opposing gyri); Unilateral; Retardation (intellectual disability); Glaucoma; GNAQ gene; Epilepsy.
Epistaxis, GI bleeding or hematuriaOsler-weber-rendu/ hereditary hemorrhagic telangiectasia, AD inheritance.


Question Answer
Saddle anesthesia, loss of anocutaneous reflex (pinprick in perianal area does not cause rapid contraction of anal sphincter), + low back pain radiating to one or both legs, bowel and bladder dysfunction (S3 to S5) and loss of ankle-jerk reflex with plantar flexion weakness of feet are symptoms ofCauda equina syndrome, damage to S2-4. Usually from massive rupture of intervertebral disk that is capable of compression 2 or more of the 18 spinal nerve roots of cauda equina. May also be due to trauma as well.
Flaccid paralysis of bladder and rectum, impotence, and saddle anesthesia with some mild weakness of leg muscleConus medullaris syndrome/L2. Usually from disk herniation, tumors, and spinal fractures.
Achilles/ Ankle-jerk reflex is fromS1-2. Tests for integrity of sciatic nerve. Lesions in these roots cause sensory loss or paresthesias over posterior leg and thigh.
Sciatic nerve roots and which most common for sciaticaL4->S3. L5 and or S1 most common. L5 -> posterior and lateral thigh and leg pain shooting to inner foot. S1-> pain strictly in posterior thigh and leg shooting to the foot with weaknesss of plantar flexion and loss of ankle jerk reflex.
Sciatica causesSpinal stenosis, vertebral disc herniations, irritation by bone spurs, and irritation by the piriformis.
Sciatica symptomsWeakness of posterior thigh muscles and all muscles below the knee. And sensory to posterior thigh and calf as well as plantar surface of the foot. DIMINISHED ANKLE REFLEX BUT NOT PATELLAR REFLEX.
Patellar reflexL2-L4.
Impairment of knee jerk reflexLoss of L4.
Foramen spinosum is important becauseMiddle Meningeal Artery (-> Epidural hematoma: Lucid interval followed by crash). Branch of Maxillary* which is branch of external carotid.
Middle meningeal artery courses just beneath what bonePterion, which is where frontal, temporal, parietal and sphenoid bones join together.
Epidermal hematomas can lead toTranstentorial herniation and oculomotor palsy.
Vomiting after chemotherapy is from triggering chemoreceptor trigger zone which is located onDorsal surface of medulla at caudal end of 4th ventricle/ AREA POSTREMA, which receives blood from fenestrated vessels (absent blood brain barrier) allowing it to sample chemicals circulating in blood.