General Principles, Nervous System and Genetic Disorders Flashcards
5 Cardinal Signs of Inflammation
- Rubor
- Dolor/pain
- Calor/heat
- Tumor/swelling
- Functio laesa
Margination
Way WBC’s move to periphery of BV by chemotaxis
Chemotaxis
Inflammatory compounds attract WBC
Pavementation
WBC’s sticking to endothelium
Emigration/Diapedesis/Transmigration
Passage of WBC through blood vessels facilitated by chemotaxis
Phagocytosis
Process of ingestion of bacteria by macrophages which are from monocytes in blood
Vasodilation is mediated by what compounds ?
Histamine (degranulation of basophils)
Bradykinin/kallikrein (nociception)
Serotonin (from platelets)
Prostaglandins (further inflammation)
Differences between: Abscess Ulcer Fistula Sinus Scar Keloid
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
Epithelioid cells
Activated macrophages in granulomatous conditions (TB, chronic inflammation)
Langhans cells
Giant cells in granulomatous disease formed by fusion of epithelioid cells
Metaplasia
Reversible change one cell type replaced by another
Dysplasia:
Disorderly but non-neoplastic growth (mild and reversible with removal of stimulus or severe could be precancerous)
Anaplasia
Disorganized, uncontrolled growth with lack of differentiation
Neoplasia
Describe new growth of cells and synonymous w/tumor
Red infarction
Hemorrhagic, organs w/dual blood supply (brain, liver, lung, gut)
White infarction
Organs w/end arteries (heart, kidney)
Agenesis
Complete absence of organ at birth
Aplasia
Due to failure of organ or tissue to develop normally
Hypoplasia
Underdevelopment of an organ or tissue resulting in decrease in the number of cells
Increase in number of cells in an organ
Hyperplasia
Increase in the size of cell organ not related to the number of cells
Hypertrophy
tresi
Congenital absence or closure of normal body opening
Decrease in size of organ/tissue
Atrophy
Necrosis, cause, organ Coagulative Liquefactive Caseous Enzymatic Fat
Coagulative, infarction in heart, protein denaturation
Liquefactive, infarctions in brain, abscess
Caseous, TB, lung
Enzymatic, acute pancreatitis
Fat, liver damage, fatty tissue
Zenkers vs Wallerian degeneration
Z: waxy hyaline seen in skeletal muscle damage
W: dying back anterogrde of nerve axons after injury to nerves
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
X-linked tyrosine kinase defect (blocks B cell maturation in boys)
Bruton’s agammaglobulinemia
DiGeorge yndrome:
thymic/parathyroid aplasia due to failure of 3/4th pharyngeal arch development –> deficient T cells
Often X-linked with defective B and T cell activation
Severe Combined Immune Deficiency (SCID)
X-linked defect w/progressive depletion of B/T cells
Wiskott-Aldrich
Chediak-Higashi syndrome
Autosomal recessive defect in phagocytosis
Down’s syndome
Trisomy 21, mental retardation,mongoloid facies, transverse palmar crease, increase risk of acute leukemia
XXY
Klinefelter’s syndrome
Tall, thin, sterile males, small testes, gynecomastia, low IQ
XO
Turner’s syndrome
Missing X in short females, web neck, widely spaced nipples, underdeveloped breasts
Genetic defect in fibrillin-1
Marfan’s (tall, thin, arachnodactyly, lens dislocation, mitral valve prolapse/regurgitation, aortic incompetence or aneuyrsm)
Hypermobile joints leading to severe joint degeneration from excessive elastic tissue
Ehlers-Danlos Syndrome
Blue Sclera
Osteogenesis imperfecta (defective collagen synthesis, frequent broken bones)
Adult polycystic disease of the kidney
large multiple cysts on both kidneys, HTN, berry aneurysms
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
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
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)
Cystic Fibrosis
Autosomal recessive, defective chloride transport, impaired mucociliary action, thick viscid secretions, recurrent lung and sinus infxn, salty sweat
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
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
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
Hemophilia
A
B
prolonged bleeding, hemarthrosis
Factor VIII A
Factor IX B
Lack of HGPRT
Lesch-Nyan syndrome, gout in children, congenital pain insensitivity leads to self-mutilation
Renal rickets/osteodystrophy:
Dominant sex-linked disorder, doesn’t respond to Vit D therapy (lack of D3 receptors)
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
Meningocele vs myelomeningocele
Meningocele: protrusion of meninges through defect in spinal column
Myelomeningocele: protrusion of meninges and spinal cord
Failure of brain and cranial vault to develop
Anencephaly
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)
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
Large posterior fossa w/cystic dilation of 4th ventricle
Dandy-Walker Syndrome
Scissor gait, UMNL
Cerebral palsy
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)
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)
Intracerebral hemorrhage
Acc blood inside brain MC lenticulostriate br of middle cerebral A
Arthropod borne viruses
WEE (western equine) EEE (eastern equine) SLE (St. Louis)
*Arthropod = mosquito
Human form of Bovine Spongiform Encephalitis
Creutzfeldt-Jakob disease
Prion disease from eating brains of dead in papua new guina
Kuru
Enterovirus causing flaccid paralysis due to detruction of anterior horn cells
Poliomyelitis
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)
Hirano bodies are part of what dementia?
Alzheimer’s
Progressive UMNL and LMNL in lower and upper limbs - damage to lateral column, ventral horns
ALS/Lou Gehrig’s
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
Wernicke Korsakoff due to what? S/S?
thiamine deficiency (alcoholism, diet) memory loss and confabulation
Posterolateral sclerosis due to what? Damages what part of cord?
B12 deficiency
Damage to dorsal columns and lateral corticospinal tracts
Psammoma bodies
Meningioma
Acoustic neuroma/Schwannoma
Internal acoustic meatus tumor - unilateral deafness and facial paralysis
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
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
Median N compression with positive Phalen’s, Tinel’s, wrist compression tests, with pain or numbness in lateral 3.5 digits
CTS
Pronator teres syndrome
Median N compressed btw heads of pronator teres - can’t flex DIP of index and middle fibers - sign of Benediction
Weakness of pincer movement of thumb and index finger and inability to make OK sign
Anterior interosseous syndrome
Elbow tunnel syndrome
Compressed ulnar N at elbow - numb along forearm and medial 1.5 digits and paralysis of interosei
Compression of superficial radial N near wrist, pain over lateral aspect of distal forearm
Cheiralgia paresthetica (Wartenberg’s syndrome)
Piriformis syndrome
Sciatic N compression as it passes through piriformi - pain into back of thigh and leg
Meralgia paresthetica
Compression of lateral femoral cutaneous N - pain and numb in ant-lat thigh
Compression of saphenous N @knee in obese patients - medial knee and leg pain
Gonalgia paresthetica
Tarsal tunnel syndrome
compression of posterior tibial N and pain in plantar surface of foot
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
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
Minamata disease/mercury poisoning
peripheral neuropathy with numbness and hypotonia
Leprosy cause
S/S
Mycobacterium leprae - cool skin and peripheral N
Claw hand, loss of outer 1/3 of eyebrow, anesthetic hypopigmented skin leions
Reactivation of dormant HHV Type 3 virus
S/S
Herpes Zoster - lives in DRG
Dermatomal rash on one side, prodrome of pain and hypersensitivity
Infectious ascending demyelinating polyneuropathy
GBS
Horner’s syndrome
Unilateral ptosis, anhydrosis, miosis from detruction of cervical sympathetic trunk (pancoast tumor or carotid A dissection)
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
Megaesophagus
Destruction of ganglionic cells from Trypanosoma cruzi –> Chagas disease and presents w/dysphagia