General Principles, Nervous System and Genetic Disorders Flashcards
1
Q
5 Cardinal Signs of Inflammation
A
- Rubor
- Dolor/pain
- Calor/heat
- Tumor/swelling
- Functio laesa
2
Q
Margination
A
Way WBC’s move to periphery of BV by chemotaxis
3
Q
Chemotaxis
A
Inflammatory compounds attract WBC
4
Q
Pavementation
A
WBC’s sticking to endothelium
5
Q
Emigration/Diapedesis/Transmigration
A
Passage of WBC through blood vessels facilitated by chemotaxis
6
Q
Phagocytosis
A
Process of ingestion of bacteria by macrophages which are from monocytes in blood
7
Q
Vasodilation is mediated by what compounds ?
A
Histamine (degranulation of basophils)
Bradykinin/kallikrein (nociception)
Serotonin (from platelets)
Prostaglandins (further inflammation)
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
9
Q
Epithelioid cells
A
Activated macrophages in granulomatous conditions (TB, chronic inflammation)
10
Q
Langhans cells
A
Giant cells in granulomatous disease formed by fusion of epithelioid cells
11
Q
Metaplasia
A
Reversible change one cell type replaced by another
12
Q
Dysplasia:
A
Disorderly but non-neoplastic growth (mild and reversible with removal of stimulus or severe could be precancerous)
13
Q
Anaplasia
A
Disorganized, uncontrolled growth with lack of differentiation
14
Q
Neoplasia
A
Describe new growth of cells and synonymous w/tumor
15
Q
Red infarction
A
Hemorrhagic, organs w/dual blood supply (brain, liver, lung, gut)
16
Q
White infarction
A
Organs w/end arteries (heart, kidney)
17
Q
Agenesis
A
Complete absence of organ at birth
18
Q
Aplasia
A
Due to failure of organ or tissue to develop normally
19
Q
Hypoplasia
A
Underdevelopment of an organ or tissue resulting in decrease in the number of cells
20
Q
Increase in number of cells in an organ
A
Hyperplasia
21
Q
Increase in the size of cell organ not related to the number of cells
A
Hypertrophy
22
Q
tresi
A
Congenital absence or closure of normal body opening
23
Q
Decrease in size of organ/tissue
A
Atrophy
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
25
Zenkers vs Wallerian degeneration
Z: waxy hyaline seen in skeletal muscle damage
W: dying back anterogrde of nerve axons after injury to nerves
26
Cell injured! Nuclear changes! What are they?
Pyknosis
Karyorrhexis
karyolysis
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
27
X-linked tyrosine kinase defect (blocks B cell maturation in boys)
Bruton's agammaglobulinemia
28
DiGeorge yndrome:
thymic/parathyroid aplasia due to failure of 3/4th pharyngeal arch development --> deficient T cells
29
Often X-linked with defective B and T cell activation
Severe Combined Immune Deficiency (SCID)
30
X-linked defect w/progressive depletion of B/T cells
Wiskott-Aldrich
31
Chediak-Higashi syndrome
Autosomal recessive defect in phagocytosis
32
Down's syndome
Trisomy 21, mental retardation,mongoloid facies, transverse palmar crease, increase risk of acute leukemia
33
XXY
Klinefelter's syndrome
| Tall, thin, sterile males, small testes, gynecomastia, low IQ
34
XO
Turner's syndrome
| Missing X in short females, web neck, widely spaced nipples, underdeveloped breasts
35
Genetic defect in fibrillin-1
Marfan's (tall, thin, arachnodactyly, lens dislocation, mitral valve prolapse/regurgitation, aortic incompetence or aneuyrsm)
36
Hypermobile joints leading to severe joint degeneration from excessive elastic tissue
Ehlers-Danlos Syndrome
37
Blue Sclera
Osteogenesis imperfecta (defective collagen synthesis, frequent broken bones)
38
Adult polycystic disease of the kidney
large multiple cysts on both kidneys, HTN, berry aneurysms
39
Glycogen storage disorders: describe
Von Gierke:
McArdle:
Pompe:
Von Gierke: G6P deficiency - glycogen acc in liver
McArdle: muscle phosphorylase deficiency glycogen acc in muscle
Pompe: maltase deficiency affects heart pump
40
Lysosomal storage disorders: describe
Tay-Sachs:
Gaucher:
Niemann Pick:
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
PKU
vs
AKU
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
Cystic Fibrosis
Autosomal recessive, defective chloride transport, impaired mucociliary action, thick viscid secretions, recurrent lung and sinus infxn, salty sweat
43
Sickle Cell Disease vs Trait?
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
Thalassemia:
| alpha vs beta
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
Duchenne MD vs Becker's MD
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
Hemophilia
A
B
prolonged bleeding, hemarthrosis
Factor VIII A
Factor IX B
47
Lack of HGPRT
Lesch-Nyan syndrome, gout in children, congenital pain insensitivity leads to self-mutilation
48
Renal rickets/osteodystrophy:
Dominant sex-linked disorder, doesn't respond to Vit D therapy (lack of D3 receptors)
49
Spina bifida
Occulta
Cystica
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
Meningocele vs myelomeningocele
Meningocele: protrusion of meninges through defect in spinal column
Myelomeningocele: protrusion of meninges and spinal cord
51
Failure of brain and cranial vault to develop
Anencephaly
52
Hydrocephalus:
Obstructive
Normal pressure
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
Arnold-Chiari malformation
Type 1
Type 2
small posterior fossa w/cerebellar herniation into foramen magnum
1: tonsils - syringomyelia
2: vermis and medulla - non-communicating hydrocephalus
54
Large posterior fossa w/cystic dilation of 4th ventricle
Dandy-Walker Syndrome
55
Scissor gait, UMNL
Cerebral palsy
56
Subdural vs extradural hematoma
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
Subarachnoid hemorrhage:
Acc of blood under arachnoid - ruptured berry aneurysm (saccular congenital swelling in cerebral A increase incidence w/adult polycystic disease of the kidney)
58
Intracerebral hemorrhage
Acc blood inside brain MC lenticulostriate br of middle cerebral A
59
Arthropod borne viruses
WEE (western equine) EEE (eastern equine) SLE (St. Louis)
| *Arthropod = mosquito
60
Human form of Bovine Spongiform Encephalitis
Creutzfeldt-Jakob disease
61
Prion disease from eating brains of dead in papua new guina
Kuru
62
Enterovirus causing flaccid paralysis due to detruction of anterior horn cells
Poliomyelitis
63
Congenital syphilis due to
| S/
intrauterine infxn
Interstitial keratitis (inflamed cornea - blind)
Rhagades (linear fissures in skin - esp mouth)
Hutchinson's teeth (notched central incisors)
64
Hirano bodies are part of what dementia?
Alzheimer's
65
Progressive UMNL and LMNL in lower and upper limbs - damage to lateral column, ventral horns
ALS/Lou Gehrig's
66
Patchy autoimmune demyelination with some regeneration in brain and cord
who gets it?
S/S
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
Wernicke Korsakoff due to what? S/S?
```
thiamine deficiency (alcoholism, diet)
memory loss and confabulation
```
68
Posterolateral sclerosis due to what? Damages what part of cord?
B12 deficiency
| Damage to dorsal columns and lateral corticospinal tracts
69
Psammoma bodies
Meningioma
70
Acoustic neuroma/Schwannoma
Internal acoustic meatus tumor - unilateral deafness and facial paralysis
71
Type I vs Type II neurofribromatosis
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
Erb-Duchenne vs Klumpke palsy
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
Median N compression with positive Phalen's, Tinel's, wrist compression tests, with pain or numbness in lateral 3.5 digits
CTS
74
Pronator teres syndrome
Median N compressed btw heads of pronator teres - can't flex DIP of index and middle fibers - sign of Benediction
75
Weakness of pincer movement of thumb and index finger and inability to make OK sign
Anterior interosseous syndrome
76
Elbow tunnel syndrome
Compressed ulnar N at elbow - numb along forearm and medial 1.5 digits and paralysis of interosei
77
Compression of superficial radial N near wrist, pain over lateral aspect of distal forearm
Cheiralgia paresthetica (Wartenberg's syndrome)
78
Piriformis syndrome
Sciatic N compression as it passes through piriformi - pain into back of thigh and leg
79
Meralgia paresthetica
Compression of lateral femoral cutaneous N - pain and numb in ant-lat thigh
80
Compression of saphenous N @knee in obese patients - medial knee and leg pain
Gonalgia paresthetica
81
Tarsal tunnel syndrome
compression of posterior tibial N and pain in plantar surface of foot
82
Neuropraxia vs axonotmesis vs neurotmesis
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
Lead poisoning/Plumbism
Axorexia, anemia, basophilic stippling of RBC, clumsy, constipation, development delays, difficult behaviour, dementia, drop wrist, emesis, fatigue (microcytic hypochromic anemia), gums are blue
84
Minamata disease/mercury poisoning
peripheral neuropathy with numbness and hypotonia
85
Leprosy cause
| S/S
Mycobacterium leprae - cool skin and peripheral N
| Claw hand, loss of outer 1/3 of eyebrow, anesthetic hypopigmented skin leions
86
Reactivation of dormant HHV Type 3 virus
| S/S
Herpes Zoster - lives in DRG
| Dermatomal rash on one side, prodrome of pain and hypersensitivity
87
Infectious ascending demyelinating polyneuropathy
GBS
88
Horner's syndrome
Unilateral ptosis, anhydrosis, miosis from detruction of cervical sympathetic trunk (pancoast tumor or carotid A dissection)
89
CPRS
1
2
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
Megaesophagus
Destruction of ganglionic cells from Trypanosoma cruzi --> Chagas disease and presents w/dysphagia
