11 In '11 Unit 1

Front 1

I cell disease

Back 1

Lacks mannose-6-phosphate (M6P) tag. Mannose not phosphorylated. Lysosomal enzymes are missorted then secreted from the cell instead.

Front 2

Neurofibrillary tangles

Back 2

Structure staining positive for uqiquitin. Ubiquitin-marked protein accumulation/aggregation (amyloid) in Alzheimer's.

Front 3

Lewy body

Back 3

Structure staining positive for uqiquitin. Ubiquitin-marked protein accumulation/aggregation (amyloid) in Parkinson's

Front 4

Mallory bodies

Back 4

Structure staining positive for uqiquitin. Ubiquitin-marked protein accumulation/aggregation (amyloid) in alcoholic liver cirrhosis.

Front 5

Pelger-Huet anomaly

Back 5

Lamin disorder resulting in hyposegmentation of WBCs.

Front 6

Zellweger syndrome

Back 6

Inability to import newly formed proteins across peroxisomal membranes. Plasmalogens (phospholipids) do not participate in myelin synthesis. Newly synthesized peroxisomal enzymes reamin in cytoplasm and are destroyed.

Front 7

Von Gierke disease

Back 7

Enlarged liver. Deficienct of G6Pase to convert glycogen to glucose.

Front 8

Krabbe disease

Back 8

Galactocerebrosidase deficiency. GALC needed for myelin synthesis. Jim Kelly family.

SYMPTOMS: changing muscle tone, blindness, deafness

Front 9

Atrophy

Back 9

Decrease in size and function of a cell. Clinically recognized as reduction in size of function of an organ. Differentiation gene expression repressed but not housekeeping genes.

Front 10

Familial hypercholesterolemia

Back 10

Autosomal dominant disorder. Caused by a mutation encoding LDL receptors. Defective receptors lose affinity for coated pits so uptake of cholesterol is blocked. May result in MI, stroke, midlife death.

Front 11

MERRF
Myoclonic Epilepsy with Ragged Red Fibers

Back 11

Point mutation in mitoDNA gene encoding tRNA for lysine. Deficiency/defect in oxidative phosphorylation. Neurons, muscles most affected.

SYMPTOMS: generalized mm weakness, ataxia, seizures, resp & cardiac failure.

Front 12

Marker enzyme

Back 12

Enzyme detected clinically used to identify cell/tissue injury and cell activity. EX:

Creatine kinase MB - an isoenzyme that increases in acute MI or myocarditis; Amylase & lipase - acute pancreatitis; amylase also increased in parotid (salivary) gland inflammation [mumps].

Front 13

Epithelial dysplasia

Back 13

Abnormal cell arrangement, growth, or development. Increases in cell number or nucleus size. Response to persistant injury or mutational change.

Usually seen in, but not limited to, hyperplastic squamous epithelium.

Front 14

Carcinoma

Back 14

Carcinoma in situ - malignant by cytology but non-invasive (superficial to basement membrane). Arises from epithelial cells. Named by appearance, organ, or cell affected.

Basal cell carcinoma, squamous cell carcinoma.

Front 15

Primary ciliary dyskinesia
(Immotile cilia syndrome)

Back 15

Autosomal recessive disorder.

Kartagener's syndrome - dynein arms absent, recurrent resp infect, situs inversus, male sterility.
Young's syndrome - defect in radial spokes & dynein arms, results in recurrent resp infections, situs inversus.
Hydrocephalus internus - ciliary defect in ventricular ependymal cells.

Front 16

Polycystic kidney disease (PKD)

Back 16

Defect in formation or function of sensory cilia. Multiple expanding cysts form ultimately resulting in kidney failure.

Front 17

Bardet-Biedl syndrome

Back 17

Collection of multigenic (9 loci) heterogenous disorders resulting from defects in formation/functioning of basal bodies and/or cilia. Results in defect in signaling pathways originating in cilia.

Sx: congenital impairment, retinal degeneration to blindness, trunk obesity, cystic kidneys, polydactyly, situs inversus, heart defects.

Tx: kidney transplant, polydactyly surgery.

Front 18

Mesothelioma

Back 18

Most common tumor arising from parietal and visceral serous membranes of pleural, peritoneal, and pericardial cavities. Usually caused by asbestos exposure. Long latency.

Sx: SOB, chest pain, pleural fluid accumulation.

Tx: surgery, radiation, chemotherapy. Poor prognosis d/t metastisizing to lymph nodes and other organs.

Front 19

Junctional complex destruction

Back 19

Secretions targeting ZO proteins and breakdown zonula occludens.

Bacteria: C. perfringens - intestine, food poisoning; H. pylori - stomach, gastric ulcers, carcinomas.

Viruses induce apoptosis. EX: adenocirus & papillomavirus -> oncogenesis, infant enteritis

Parasites: house dust mite - proteases degrade occludin & ZO-1, respiratory epithelium vulnerable to allergens.

Front 20

Alexander disease

Back 20

the feature is an accumulation of cytoplasmic inclusions in astrocytes that contain glial acidic fibrillary intermediate filaments (GFAP intermediate filaments). These inclusions are called Rosenthal fibers. Other organelles are affected because of this and the structural integrity of the astrocyte is compromised.

Front 21

Bullous pemphigoid

Back 21

1. Autoimmune disease –antibodies produced against hemidesmosomes  degradation
2. Onset at age ~65; rare in US, more common in Europe
3. Characterized by chronic, generalized blisters in skin causing epithelium to separate
from CT
4. Diagnosed by presence of IgG directed against BP230
5. Treatment: corticosteriods and immunosuppressives

Front 22

Adenocarcinoma

Back 22

1. Form of carcinoma orginating in glandular tissue
2. Cells do NOT have to appear glandular but DO have to have secretory properties
3. Most common type of colorectal cancer

Front 23

Hurler Syndrome

Back 23

Increase in GAGs dermatan sulfate or heparan sulfate in CT. Also called mucopolysaccharidosis I. Genetic, LSD, deficiency of iduronidase. Marked by hepatosplenomegaly, dwarfism, gargolism.

Front 24

Lipoma

Back 24

Most common benign adipose tumor in males. Well-defined, soft painless, mass of adipose. Usually found in sub-q of back, thorax, and proximal extremities.

Front 25

Keloids

Back 25

Overgrowth of dense CT. Usually develops after healing of skin injury. More collagen produced than degraded with scaring in all directions. Myofibroblast involvement.

Front 26

Multiple Myeloma

Back 26

Plasma cell dyscrasia. Sheets of malignant plasma cells present in bone marrow aspirate (>10%). IgM spike in 80-90% of cases. Degrades cortical bone.

Front 27

Anaphylaxis

Back 27

Type I immediate hypersensitivity rxn. Process/event leading to degranulation of mast cells. Skin appears red & edematous; wheals or hives sometimes result.

Front 28

Dupuytren Disease

Back 28

Involves myofibroblasts of palmar fascia. Finger tendon contraction d/t pathology or following injury and healing.

Front 29

Osteogenesis Imperfecta

Back 29

Type I collagen disease. Brittle bone disease. Lack of calcification or severe decalcification of bone. Eye sclera thinner, so OI sclera blue d/t choroid plexus veins showing through.

Front 30

Marfan Syndrome

Back 30

CT disorder where no or irregular fibrillin is present in elastic CT.

Front 31

Ehlers-Danlos IV

Back 31

Type III collagen disorder. Affects organ walls. Causes arterial & intestinal rupture and hypermobility of joints.

Front 32

Alport Syndrome

Back 32

Type IV collagen defects causing basement membrane disorder. hematuria most common sx and earliest manifestation

Front 33

Malignant Fibrous Histiocytoma

Back 33

Most common soft tissue tumor. Classified as sarcoma d/t mesenchymal embryonic origin. Variety of cells present including fibroblasts, macrophages, mesenchymal cells. Arises in deep fascia, ST of neck and extremities, and skeletal mm.

Front 34

Paget's Disease

Back 34

Uncontrolled OC activity -- deals with regulation of PTH v Calcitonin.

Front 35

Osteomalacia

Back 35

Impaired mineralization of bone in adults (adult rickets).

Front 36

Osteoporosis

Back 36

Decrease in bone mass leading to thin trabeculae and cortical bone. Alcoholism inhibits OBs and stimulates OC activity; loss of estradiol.

Front 37

Osteopetrosis

Back 37

Excessive formation of dense trabecular bone - overgrowth - leading to thick bone as in Marble Bone Dz. Ruffled border of OCs affected by loss of impt enzyme.

Front 38

Rickets

Back 38

Impaired mineralization in children.

Front 39

GH (somatotropin) & Acromegaly

Back 39

Chondrocytes in epiphyseal plate regulated by IGF-1 primarily produced in liver in response to GH. Oversecretion of IGF-1 or GH leads to gigantism (peds) or acromegaly (adult).

Front 40

Osteogenic Sarcoma

Back 40

Highly malignant. Forms neoplastic bone tissue. Most common primary malignancy - 1/5 all osteomas, mostly males ages 10-25. OBs produce woven bone. Serum alkalase elevated in 1/2 of Pts. Radiographic sunburst present.

Front 41

Herniated (slipped) Disk

Back 41

Results from overall loss of integrity or elasticity of annulus fibrosis fibrocartilage. Protrusion of nucleus pulposus into spinal canal.

Front 42

Gigantism

Back 42

Over secretion of GH in childhood or disorder with GH secretion regulation.
Absence or hypo secretion of GH leads to pituitary dwarfism.

Front 43

Osteoarthritis

Back 43

Affect of IL-1 and TNF on cartilage. Chondrocytes are affected and MMPs are stimulated. Type II collagen destroyed.

Front 44

Marble Bone Disease
(Albers-Schonberg Dz)

Back 44

Enzyme carbonic anhydrase missing and pH of Howship's lacunae not effective for enzymes and for degradation of bone. OCs lose fxn & bone builds up.

Front 45

Rabies

Back 45

Virus utilizing axonal transport for travel to site of replication and release.

Infected bite -> replicates in mm & released -> binds Ach receptor of nn -> fast retrograde transport to neuronal cell body -> CNS (clinical stage) where replicates -> encephalitis -> salivatory glands via anterograde transport.

Negri and lyssa bodies: eosinophylic cytoplasmic inclusions.

Front 46

Botulinum toxin

Back 46

Inhibits Ach release

Front 47

Parkinson's Disease

Back 47

Progressive neurologic disorder d/t loss of dopaminergic neurons.

Front 48

Hydrocephalus

Back 48

genetic: immotile cilia on ependymal cells

d/t lack of absorption, block in flow, overproduction of CSF. Cause acquired or genetic. Dx: neuro exam and imaging. Tx: shunt placement

Front 49

MS

Back 49

CNS demyelination in multiple areas. Chronic progressive episodes of neurologic deficits. Increase in IgG in CSF & abnormalities in T cell fxn. Loss of oligodendrocytes d/t T-cell induced apoptosis. Myelin loss inhibits AP conduction.

Tx: decrease immune response.

Front 50

Peripheral Neuropathy

Back 50

PNS demyelination. >100 types. Guillain-Barre synd (ex of acquired): acute inflammatory demyelinating polyneuropathy d/t autoimmune disorder, results in ascend paralysis. Charcot-Marie-Tooth Dz (ex of hereditary): hereditary motosensory neuropathy, defects in forming myelin. Dx with electromyogram and nerve conduction study. Axon damage seen as loss of potential amplitude; loss of myelin seen as decrease in nerve conduction velocity.

Front 51

Amyotrophic Lateral Sclerosis (ALS / Lou Gherig's Dz)

Back 51

Progressive degeneration of motor neurons of CNS d/t astrocytic gliosis. 5-10% cases familial with 20% mutation in gene superoxide dismutase 1. Sporadic ALS assoc w/ Abs against voltage-gated Ca2+ channels.

Front 52

Alzheimer's Disease

Back 52

Most common neurodegenerative dz. Progressive cortical dementia. Familial: mutations in presenilin 1,2 & b-amyloid precursor protein = accumulation of abnormal b-amyloid peptide & formation of amyloid plaques. Presence of Hirano bodies intracytoplasmic inclusions. 1+ Eε4 alleles inheritance indicates susceptibility risk factor. Neurofibrillar tangles - IFs. CSF test for Eε4

Front 53

Huntington's Disease (chorea)

Back 53

Degeneration of cholinergic & GABA-ergic neurons d/t CAG repeats.

1:10k affected. DNA test for mutation in HD gene. Increased CAG repeats = Glu -> programmed degen of basal ganglia neurons. Only tx sx.

Front 54

Tay-Sachs Disease

Back 54

Accumulation of gangliosides in CNS neurons.

Autosomal recessive. Appears @ ~6mo. Deficiency in hexosaminidase A. Infants present with characteristic cherry red spot in retina. Histologically: dissension of CNS and PNS nerve cells with cytoplasmic lipid droplets & lysosomes filled with myelin figures.

Front 55

Shingles

Back 55

Painful inflammation of nerves by herpes zoster within dermatome of infected spinal segment. Presents with redness and vesicular eruptions.