Exam 1 Clinicals Flashcards
1
Q
Prader-Willi/Angelman syndrome
A
-deletion of chromosome 15
if inherited from father= Prader-willi
if inherited from mother=angelman
2
Q
Philadelphia translocation
A
chromsomes 9 & 22 swap places
-ABL1 gene on chromosome 9 gets connected to part of BCR (Breakpoint cluster region)
3
Q
Lysosomal Storage Disease (LSD)
A
dysfunctional lysosomes
- most cases=defective protein such as hydrolytic enzyme or its cofactor
- results in buildup of products that normally get digested
- causes cell death
4
Q
Tay-Sachs Disease
A
Missing enymze (B-hexosaminidase)
- splits off from a ganglioside
- causes accumulation of gangliosides
5
Q
Most common LSD’s in children
A
Gaucher Disease
Hurler Syndrome (MPS I)
Hunter Syndrome (MPS II)
Pompe Disease
6
Q
Primary Ciliary Dyskinesia (PCD)
A
- males are sterile due to immotile flagella
- females are still sterile, but miscarriages are more common
- symptoms of hydrocephalus internus (accumulation of fluid in brain)
- 50% of patients get situs inverses (major organs are reversed from norm positions)
7
Q
Kartagener’s syndrome
A
absence of dynenin arms
- cant clear mucus
- malfunction of sperm tails
- dextrocardia (embryonic arrest & Situs inversus)
8
Q
Youngs Syndrome
A
malformation of radial spokes of dynein arms
9
Q
Hydrocephalus
A
accumulation of CSF in ventricles of brain
acute inflammation-immediate response of immune system due to tissue injury
10
Q
Apoptosis
A
programmed cell death
Role of mitochondria?
11
Q
Atrophy
A
decrease in size of cell
12
Q
calcification
A
abnormal calcification of tissue
13
Q
Chronic Inflammation
A
ongoing inflammatory process
-weeks to months
14
Q
ALpha 1-Antitrypsin
A
caused bc low serum concentrations of alpha 1-antitrypsin
15
Q
Amyloid
A
Abnormal Protein
- AL
- AA
- AB=Alzheimers
16
Q
Steatosis, fatty change
A
accumulation of lipids
- seen in alcohol abuse
- hepatitis C, genetic predisposition, diabetes mellitus
17
Q
Lewy body
A
intracytoplasmic oval with a halo
-seen in parkinson’s
18
Q
Neurofibrillary tangles
A
tangles within neurons
-seen in Alzheimers
19
Q
Granulomatous inflammation
A
characterized by epitheliiod histiocytes (collection of histiocytes termed granulomas)
-seen in mycobacterium tuberculosis, histoplasmosis capsulate
20
Q
Hydropic change
A
early reversible cell injury
21
Q
Karyorrhexis
A
pattern of nuclear change
-irreversilbly damaged cells
22
Q
Metaplasia
A
Reversible change of one mature cell type to another
-bc of environmental stimulus
23
Q
Monomorphism
A
cell populations that show little difference in size/shape of cell or nucleus itself
24
Q
Multinucleation
A
cells with multiple nuclei
25
Pleomorphism
cell populations that show difference in size/shape of cell or nucleus
26
Pyknosis
morphological change in nucleus of an irreversibly changed cell
27
Scar, cicatrix
comes from complex healing process
| -formation of new blood vessels, tissue remodeling, and wound contraction
28
Necrosis
death of living cells due to an irreversibly cell injury
29
Caseous necrosis
obliteration of underlying tissue architecture
| -formation fo amorphous granular necrotic debris
30
Coagulative necrosis
preservation of cellular outlines
31
Fat necrosis
necrosis seen in adipose (fat) tissue
32
Liquefactive necrosis
seen after bacterial infection involving CNS
33
Effusion
excessive fluid in mesothelial lined cavity
34
Pleurisy
inflammation of pleura
35
Pemphigus vulgaris
supra basal acantholytic blister
- acantholytic keratinocytes
- IgG antibodies various desmogleins
36
Bullous pemphigoid
sub epidermal nonacantholytic blister
- eosinphil
- full-thickness epidermis w/intact intercellular junctions (key distinction)
37
Mesothelioma
cancer of mesothelium
- long slender and curved microvilli
- asbestos exposure or smokers
38
Malignant mesothelioma
Epitheloid malignant mesothelioma
- sarcomatid maligna mesothelioma
- Biphasic malignant mesothelioma
39
Barrett's Esophagus
Complicatoin of chronic GERD
- goblet cells
- stratified squamous changes to simple columnar
40
Tracheal metaplasia
metaplastic squamous epithelium
41
Aterosclerosis
deposits of yellow plaque form (contain cholesterol, lipid material, & lipophages (Macrophages))
42
Hyperthyroidism
overproduction of thyroid hormone
43
Graves Disease
Most common form of hyperthyroidism
- antibodies in blood mimic thyroid stimulating hormone
- excessive thyroid hormone
44
Hypothyroidism
low levels of thyroid hormone secretion
45
Renal Fanconi syndrome
Impairment of proximal tubular function in kindye
- results from an abnormality in epithelial lining
- causes loss of substance that are excreted in urine that cause rickets (children) or osteomalacia (adults
46
Celiac Disease
disorder to small intestine
| -cant eat food with gluten
47
Bronchitis
- acute/chronic inflammation of bronchial tubes
| - leading cause is cig smoking
48
Salivary Gland swelling
swelling w/inflammation (disladenitis)
| -saliva can't exit mouth
49
Trachoma
Form of pink eye
| -caused by bacteria chlamydia trachomatis
50
Parkinsons disease
Lewy bodies
- lewy neurites
- glosis (cells-astrocytes)
51
Alzheimer's Disease
B-amyloid plaque
| -neurofibrillary tanges
52
Depression
Low levels of serotonin, dopamine, norepinephrine
53
Treatment of Depression
SSRIs (selective serotonin reuptake inhibitor)
SNRIs (serotonin-norepinephrine reuptake inhibitor)
MAOIs (monoamine oxidase inhibitors)
-old school way
-rapidly degrades serotonin, dopamine, norepinephrine
-only gets used if first 2 treatments fail, not as effective, has mores ie effects
54
Huntington Chorea
Loss of GABA producing neurons
55
Fibrous Astrocytoma
Brain tumors
| -account for 80% of adult primary brain tumors
56
Multiple Sclerosis
axon organelle acummulation
- axon cytoskeleton disruption
- cytoplasmic tongue swelling (cells-oligodendrocytes)
57
Guillain-Barre Syndrome
Myelin destruction
| -majority of infiltrating cells are lymphocytes
58
Rabies infection
caused by rabies virus
- Negri Bodies
- perivascular cuff
- lymphocyte focus
- babes nodules (cells-glia)
59
Reuptake mechanism
5-HT reuptake receptors
| -dendrites become more prevalent
60
Hirschsprung's disease (HD)
aganglionosis
| -absence of ganglia in wall of bowel
61
Hereditary Sensory motor neuropathy type III (HSMN III)
loss of myelination around neurons in PNS
| -atoxic or scoliosis
62
Encephalocele
defect in calvarium as bone of skull is formed
| -CSF, meninges, brain tissue may protrude
63
Glioblastoma
highly malignant tumor in brain
- arises from neoplastic astrocytes
- palisading
64
Neurogenerative disease
diseases characterized by progressive degeneration & death f nerve cells
EX: Alzheimers and Parkinsons
65
Demyelinated Disease
Decreased/lost transmission of electrical impulses along nerve fibers
Ex: Guillain-Barre and Multiple Sclerosis
66
Actinic Keratosis
solar elatosis
- degenerative skin condition from to much sun light
- loose, wrinkly, dry, sagging skin
67
Tendinosis
Degenerative disorder that occurs within substance of a tendon
-assoicated with age or overexertion
68
Whipple Disease
Multisystemic disease caused by infection of bacillus Tropheryma Whippleii
- primarily affects small intestine
- increased # of macrophages
69
Cirrhosis
liver disorder
- caused by chronic injury to hepatic parenchyma
- collapse of reticular LCT with increased collagen and elastic fibers
- causes portal hypertension (may lead to splenomegaly)
70
Collagenopathies
caused by deficit/abnormality in production of specific collagen
-most attracted to mutation is genes encoding alpha chains in collagen
71
Disorder of basement membranes are involve in several diseases
- Renal Function
- Cancer
- Genetic Diseases
- Autoimmune diseases (Goodpasture syndrome)
72
Ehler's Danios Syndrome
Mutated Collagen
- hyperextensible skin
- hypermobile joints
73
Marfans Syndrome
Results from mutation in FBN1 gene encoding Fibrillin
- fragmented elastic tissue
- loose mucopolysaccharides
- Fibrosis
74
Fibrosis Process
excessive deposition of collagen
75
Pulmonary Fibrosis
connective tissue deposition
- occurs b/w 50-70 yr old typically
- more at risk if suffer from lung damage
76
Liver Cirrhosis
reticular fibrosis
- type 1 collagen disposition
- scar tissue build up=liver function worsens=eventually doesn't work at all
- caused by alcoholism, fatty liver disease, hep B or C
77
Cardiac Fibrosis
over activation of fibrocytes=thickening of tricuspid valve and pulmonary valve
-compound in red wine can slow this called resveratrol
3 forms of fibrosis
- mild
- severe
- reticular
78
Osteogenesis imperfecta
mutation in genes from type 1 collagen (COL1A1 & COL1A2)
-brittle bone, resulting in extreme skeletal fragility
- compressed vertebral body
- bone marrow fibrosis
- mineralize bone trabeculae
79
Soft tissue tumors
tumors of support cells
80
Lipoma (benign tumor)
due to abnormal growth of adipocytes
| -malignant tumors of adipocytes are called liposarcomas
81
Fibroma Pendulans
benign tumors of fibroblasts called fibromas
82
First Degree burn
Epidermis only
| -redness, pain, edema (sunburn)
83
Second Degrée burns
- epidermis and dermis
| - intense pain, redness, and blistering
84
Third degree burns
involve bone
| -most commonly seen in electrical injury
85
Cancer- Sunlight and skin
Ultraviolet A (long wavelength)
- causing aging of skin, tanning and sometimes sunburn
- penetrates deeply and may contribute to skin cancer
86
Ultraviolet B
(shorter wavelength than A
- sunburn, premature aging, and wrinkling
- responsible for basal/squamous cell carcinomas
- play a role in malignant melanoma
87
Melanoma
deadliest skin cancers
| -hard to treat, can go into remission then resurface years later
88
Basal cell carcinoma
most common skin malignancy
- develops slowly, rarely metastasizes
- nearly 100% curable if diagnoses early and & treated properly
89
Squamous Cell carcinoma
comes from cells in s. spinosum
- grows faster than basal cell carcinoma
- can mestastasize
90
Carcinoma
cancer involving epithelial cells
91
Epidermolysis bullosa
characterized by blistering following minor trauma
| -due to defects in keratinocyte intermediate filaments
92
Warts
on dorsal of hands, near nails
| -involves epidermal hyperplasia, eosinophilic cytoplasmic inclusions, and basophilic nuclei
93
UV radiation
exposure of unprotected skin to UV light can cause damage, even in absence of sunburn
94
Skin cancers
Basal cell carcinomas
| -squamous cell carcinoma
95
Malignant mesothelioma
life threatening
- originates in melanocytes
- chemotherapy and surgery are involved to treat
96
Keloids
swelling in skin bc of increased collagen formation in scar tissue
-common in African Americans
97
Psoriasis
inflamed patches of skin with white, flaky layer on top
| -due to increase in acitvyt of cells in Malpighian layer of epidermis
