General Principles, Nervous System and Genetic Disorders Flashcards

1
Q

5 Cardinal Signs of Inflammation

A
  1. Rubor
  2. Dolor/pain
  3. Calor/heat
  4. Tumor/swelling
  5. Functio laesa
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2
Q

Margination

A

Way WBC’s move to periphery of BV by chemotaxis

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3
Q

Chemotaxis

A

Inflammatory compounds attract WBC

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4
Q

Pavementation

A

WBC’s sticking to endothelium

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5
Q

Emigration/Diapedesis/Transmigration

A

Passage of WBC through blood vessels facilitated by chemotaxis

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6
Q

Phagocytosis

A

Process of ingestion of bacteria by macrophages which are from monocytes in blood

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7
Q

Vasodilation is mediated by what compounds ?

A

Histamine (degranulation of basophils)
Bradykinin/kallikrein (nociception)
Serotonin (from platelets)
Prostaglandins (further inflammation)

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8
Q
Differences between:
Abscess
Ulcer
Fistula
Sinus
Scar
Keloid
A

Abscess - pus filled cavity
Ulcer - loss of surface epithelium
Fistula - abnormal communication btw two epithelial surfaces
Sinus - blind-ending track connected to one epithelial surface
Scar - tissue healing with fibrous tissue
Keloid - overgrowth of fibrous scar tissue

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9
Q

Epithelioid cells

A

Activated macrophages in granulomatous conditions (TB, chronic inflammation)

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10
Q

Langhans cells

A

Giant cells in granulomatous disease formed by fusion of epithelioid cells

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11
Q

Metaplasia

A

Reversible change one cell type replaced by another

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12
Q

Dysplasia:

A

Disorderly but non-neoplastic growth (mild and reversible with removal of stimulus or severe could be precancerous)

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13
Q

Anaplasia

A

Disorganized, uncontrolled growth with lack of differentiation

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14
Q

Neoplasia

A

Describe new growth of cells and synonymous w/tumor

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15
Q

Red infarction

A

Hemorrhagic, organs w/dual blood supply (brain, liver, lung, gut)

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16
Q

White infarction

A

Organs w/end arteries (heart, kidney)

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17
Q

Agenesis

A

Complete absence of organ at birth

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18
Q

Aplasia

A

Due to failure of organ or tissue to develop normally

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19
Q

Hypoplasia

A

Underdevelopment of an organ or tissue resulting in decrease in the number of cells

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20
Q

Increase in number of cells in an organ

A

Hyperplasia

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21
Q

Increase in the size of cell organ not related to the number of cells

A

Hypertrophy

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22
Q

tresi

A

Congenital absence or closure of normal body opening

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23
Q

Decrease in size of organ/tissue

A

Atrophy

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24
Q
Necrosis, cause, organ
Coagulative
Liquefactive
Caseous
Enzymatic
Fat
A

Coagulative, infarction in heart, protein denaturation
Liquefactive, infarctions in brain, abscess
Caseous, TB, lung
Enzymatic, acute pancreatitis
Fat, liver damage, fatty tissue

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25
Q

Zenkers vs Wallerian degeneration

A

Z: waxy hyaline seen in skeletal muscle damage
W: dying back anterogrde of nerve axons after injury to nerves

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26
Q

Cell injured! Nuclear changes! What are they?
Pyknosis
Karyorrhexis
karyolysis

A

Pyknosis: irreversible nuclear chromatin condensation/clumping [ph change]
Karyorrhexis: irreversible chromatin fragmentation [Ca2+ influx]
karyolysis: enzymatic breakdown of DNA after cell death; complete disappearance of stainable nuclear material

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27
Q

X-linked tyrosine kinase defect (blocks B cell maturation in boys)

A

Bruton’s agammaglobulinemia

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28
Q

DiGeorge yndrome:

A

thymic/parathyroid aplasia due to failure of 3/4th pharyngeal arch development –> deficient T cells

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29
Q

Often X-linked with defective B and T cell activation

A

Severe Combined Immune Deficiency (SCID)

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30
Q

X-linked defect w/progressive depletion of B/T cells

A

Wiskott-Aldrich

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31
Q

Chediak-Higashi syndrome

A

Autosomal recessive defect in phagocytosis

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32
Q

Down’s syndome

A

Trisomy 21, mental retardation,mongoloid facies, transverse palmar crease, increase risk of acute leukemia

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33
Q

XXY

A

Klinefelter’s syndrome

Tall, thin, sterile males, small testes, gynecomastia, low IQ

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34
Q

XO

A

Turner’s syndrome

Missing X in short females, web neck, widely spaced nipples, underdeveloped breasts

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35
Q

Genetic defect in fibrillin-1

A

Marfan’s (tall, thin, arachnodactyly, lens dislocation, mitral valve prolapse/regurgitation, aortic incompetence or aneuyrsm)

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36
Q

Hypermobile joints leading to severe joint degeneration from excessive elastic tissue

A

Ehlers-Danlos Syndrome

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37
Q

Blue Sclera

A

Osteogenesis imperfecta (defective collagen synthesis, frequent broken bones)

38
Q

Adult polycystic disease of the kidney

A

large multiple cysts on both kidneys, HTN, berry aneurysms

39
Q

Glycogen storage disorders: describe
Von Gierke:
McArdle:
Pompe:

A

Von Gierke: G6P deficiency - glycogen acc in liver
McArdle: muscle phosphorylase deficiency glycogen acc in muscle
Pompe: maltase deficiency affects heart pump

40
Q

Lysosomal storage disorders: describe
Tay-Sachs:
Gaucher:
Niemann Pick:

A

Tay-Sachs: ganglioside acc in brain w/cherry red macula, blindness, severe mental retardation, death (Ashkenazi Jews)
Gaucher: glucocerebrosides acc in liver/spleen (MC)
Niemann Pick: sphingomyelin acc in liver and brain

41
Q

PKU
vs
AKU

A

PKU: acc phenylalanind due to lack of PA hydroxylase; mental retardation, restrict dietary phenylalanine if Guthrie test for PKA is +
AKU: deficient in homogenistic acid destruction, urine black on standing, dark cartilage (ochronosis)

42
Q

Cystic Fibrosis

A

Autosomal recessive, defective chloride transport, impaired mucociliary action, thick viscid secretions, recurrent lung and sinus infxn, salty sweat

43
Q

Sickle Cell Disease vs Trait?

A

Disease: recessive gene in African-Americans, gluamic acid w/valin @position 6 of beta chain in hgb, microvascular occlusion - hypoxia, acidosis, fever and painful bones (anemia - normocytic/normochromic, jaundice, fatigue), hepatosplenomegaly, priapism, incrased risk of salmonella osteomyelitis, pneumococcal pneumonia but protects from palsmodium falciparum malaria
Trait: autosomal dominant, asymptomatic unless severely stressed physically

44
Q

Thalassemia:

alpha vs beta

A

Sub-optimal Hgb synthesis, microcytic hypochromic anemia, resistant to malaria parasite
Beta: mediterranean descent, defect in beta globulin chains (Hgb A)
Alpha: SE Asia, West Africa, defect in alpha globin chain

45
Q

Duchenne MD vs Becker’s MD

A

Duchenne’s: total absence of dystrophin, progressive muscle weakness, pseudohypertrophic calf muscles, Gower’s sign, death <20 (cardiorespiratory)
Becker: milder form of Duchenne’s with decreases levels of dystrophin

46
Q

Hemophilia
A
B

A

prolonged bleeding, hemarthrosis
Factor VIII A
Factor IX B

47
Q

Lack of HGPRT

A

Lesch-Nyan syndrome, gout in children, congenital pain insensitivity leads to self-mutilation

48
Q

Renal rickets/osteodystrophy:

A

Dominant sex-linked disorder, doesn’t respond to Vit D therapy (lack of D3 receptors)

49
Q

Spina bifida
Occulta
Cystica

A

neural tube defect due to folic acid deficiency in 1st trimester, elevated a-fetoprotein
Occulta: neural arch fails to close w/tuft of hair over dimple in L-spine
Cystica: meninges protrude under skin

50
Q

Meningocele vs myelomeningocele

A

Meningocele: protrusion of meninges through defect in spinal column
Myelomeningocele: protrusion of meninges and spinal cord

51
Q

Failure of brain and cranial vault to develop

A

Anencephaly

52
Q

Hydrocephalus:
Obstructive
Normal pressure

A

Hydrocephalus: acc of CSF in ventricles
Obstructive (obstruction to flow of CSF - non-communicating)
Normal pressure - in elderly, dilated ventricles, reversible dementia, ataxia, incontinence (Hakim’s triad)

53
Q

Arnold-Chiari malformation
Type 1
Type 2

A

small posterior fossa w/cerebellar herniation into foramen magnum

1: tonsils - syringomyelia
2: vermis and medulla - non-communicating hydrocephalus

54
Q

Large posterior fossa w/cystic dilation of 4th ventricle

A

Dandy-Walker Syndrome

55
Q

Scissor gait, UMNL

A

Cerebral palsy

56
Q

Subdural vs extradural hematoma

A

Subdural: blood under dura; trauma in elderly - tear of bridging dural V (crescentic shadow)
Extradural blood outside dura; trauma in adults; tear in middle meningeal A (lens-shaped/biconvex)

57
Q

Subarachnoid hemorrhage:

A

Acc of blood under arachnoid - ruptured berry aneurysm (saccular congenital swelling in cerebral A increase incidence w/adult polycystic disease of the kidney)

58
Q

Intracerebral hemorrhage

A

Acc blood inside brain MC lenticulostriate br of middle cerebral A

59
Q

Arthropod borne viruses

A

WEE (western equine) EEE (eastern equine) SLE (St. Louis)

*Arthropod = mosquito

60
Q

Human form of Bovine Spongiform Encephalitis

A

Creutzfeldt-Jakob disease

61
Q

Prion disease from eating brains of dead in papua new guina

A

Kuru

62
Q

Enterovirus causing flaccid paralysis due to detruction of anterior horn cells

A

Poliomyelitis

63
Q

Congenital syphilis due to

S/

A

intrauterine infxn
Interstitial keratitis (inflamed cornea - blind)
Rhagades (linear fissures in skin - esp mouth)
Hutchinson’s teeth (notched central incisors)

64
Q

Hirano bodies are part of what dementia?

A

Alzheimer’s

65
Q

Progressive UMNL and LMNL in lower and upper limbs - damage to lateral column, ventral horns

A

ALS/Lou Gehrig’s

66
Q

Patchy autoimmune demyelination with some regeneration in brain and cord
who gets it?
S/S

A

MS
Younger females of Northern European descent, colder climates
Charcot’s triad: scanning speech, intention tremor, nystagmus
Plaques in spinal cord and around ventricles in brain

67
Q

Wernicke Korsakoff due to what? S/S?

A
thiamine deficiency (alcoholism, diet)
memory loss and confabulation
68
Q

Posterolateral sclerosis due to what? Damages what part of cord?

A

B12 deficiency

Damage to dorsal columns and lateral corticospinal tracts

69
Q

Psammoma bodies

A

Meningioma

70
Q

Acoustic neuroma/Schwannoma

A

Internal acoustic meatus tumor - unilateral deafness and facial paralysis

71
Q

Type I vs Type II neurofribromatosis

A

1: Von Recklinghausen’s disease - multiple neurofibroma in skin, cord, brain w/cafe au lait (coast of california) lesions, can be associated w/pheocrhomocytoms
2: central variety - bilateral acoustic neuroma

72
Q

Erb-Duchenne vs Klumpke palsy

A

Erb: C5-6 root damage, vertex delivery/sports injury cause - elbow extended, int rtn of arm, pronated forearm
Klumpke: C8/T1 root damage breech delivery or sports injury - claw hand

73
Q

Median N compression with positive Phalen’s, Tinel’s, wrist compression tests, with pain or numbness in lateral 3.5 digits

A

CTS

74
Q

Pronator teres syndrome

A

Median N compressed btw heads of pronator teres - can’t flex DIP of index and middle fibers - sign of Benediction

75
Q

Weakness of pincer movement of thumb and index finger and inability to make OK sign

A

Anterior interosseous syndrome

76
Q

Elbow tunnel syndrome

A

Compressed ulnar N at elbow - numb along forearm and medial 1.5 digits and paralysis of interosei

77
Q

Compression of superficial radial N near wrist, pain over lateral aspect of distal forearm

A

Cheiralgia paresthetica (Wartenberg’s syndrome)

78
Q

Piriformis syndrome

A

Sciatic N compression as it passes through piriformi - pain into back of thigh and leg

79
Q

Meralgia paresthetica

A

Compression of lateral femoral cutaneous N - pain and numb in ant-lat thigh

80
Q

Compression of saphenous N @knee in obese patients - medial knee and leg pain

A

Gonalgia paresthetica

81
Q

Tarsal tunnel syndrome

A

compression of posterior tibial N and pain in plantar surface of foot

82
Q

Neuropraxia vs axonotmesis vs neurotmesis

A

Transient compression or low force injury w/rapid and complete recovery
axon damaged but sheath intact, axon regenerates; slow recover (1mm/day)
axon and sheath completely transected; permanent damage, no recovery

83
Q

Lead poisoning/Plumbism

A

Axorexia, anemia, basophilic stippling of RBC, clumsy, constipation, development delays, difficult behaviour, dementia, drop wrist, emesis, fatigue (microcytic hypochromic anemia), gums are blue

84
Q

Minamata disease/mercury poisoning

A

peripheral neuropathy with numbness and hypotonia

85
Q

Leprosy cause

S/S

A

Mycobacterium leprae - cool skin and peripheral N

Claw hand, loss of outer 1/3 of eyebrow, anesthetic hypopigmented skin leions

86
Q

Reactivation of dormant HHV Type 3 virus

S/S

A

Herpes Zoster - lives in DRG

Dermatomal rash on one side, prodrome of pain and hypersensitivity

87
Q

Infectious ascending demyelinating polyneuropathy

A

GBS

88
Q

Horner’s syndrome

A

Unilateral ptosis, anhydrosis, miosis from detruction of cervical sympathetic trunk (pancoast tumor or carotid A dissection)

89
Q

CPRS
1
2

A

1: Sudeck’s atrophy, RD severe local dysfn of sympathetic N following minor injury
2: causalgia due to distinct N injury pain and swelling and osteoporosis of underlying bone, MC in foot and females

90
Q

Megaesophagus

A

Destruction of ganglionic cells from Trypanosoma cruzi –> Chagas disease and presents w/dysphagia