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

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2
Q

Philadelphia translocation

A

chromsomes 9 & 22 swap places

-ABL1 gene on chromosome 9 gets connected to part of BCR (Breakpoint cluster region)

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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
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4
Q

Tay-Sachs Disease

A

Missing enymze (B-hexosaminidase)

  • splits off from a ganglioside
  • causes accumulation of gangliosides
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5
Q

Most common LSD’s in children

A

Gaucher Disease
Hurler Syndrome (MPS I)
Hunter Syndrome (MPS II)
Pompe Disease

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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)
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7
Q

Kartagener’s syndrome

A

absence of dynenin arms

  • cant clear mucus
  • malfunction of sperm tails
  • dextrocardia (embryonic arrest & Situs inversus)
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8
Q

Youngs Syndrome

A

malformation of radial spokes of dynein arms

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9
Q

Hydrocephalus

A

accumulation of CSF in ventricles of brain

acute inflammation-immediate response of immune system due to tissue injury

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10
Q

Apoptosis

A

programmed cell death

Role of mitochondria?

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11
Q

Atrophy

A

decrease in size of cell

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12
Q

calcification

A

abnormal calcification of tissue

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13
Q

Chronic Inflammation

A

ongoing inflammatory process

-weeks to months

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14
Q

ALpha 1-Antitrypsin

A

caused bc low serum concentrations of alpha 1-antitrypsin

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15
Q

Amyloid

A

Abnormal Protein

  • AL
  • AA
  • AB=Alzheimers
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16
Q

Steatosis, fatty change

A

accumulation of lipids

  • seen in alcohol abuse
  • hepatitis C, genetic predisposition, diabetes mellitus
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17
Q

Lewy body

A

intracytoplasmic oval with a halo

-seen in parkinson’s

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18
Q

Neurofibrillary tangles

A

tangles within neurons

-seen in Alzheimers

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19
Q

Granulomatous inflammation

A

characterized by epitheliiod histiocytes (collection of histiocytes termed granulomas)
-seen in mycobacterium tuberculosis, histoplasmosis capsulate

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20
Q

Hydropic change

A

early reversible cell injury

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21
Q

Karyorrhexis

A

pattern of nuclear change

-irreversilbly damaged cells

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22
Q

Metaplasia

A

Reversible change of one mature cell type to another

-bc of environmental stimulus

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23
Q

Monomorphism

A

cell populations that show little difference in size/shape of cell or nucleus itself

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24
Q

Multinucleation

A

cells with multiple nuclei

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25
Q

Pleomorphism

A

cell populations that show difference in size/shape of cell or nucleus

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26
Q

Pyknosis

A

morphological change in nucleus of an irreversibly changed cell

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27
Q

Scar, cicatrix

A

comes from complex healing process

-formation of new blood vessels, tissue remodeling, and wound contraction

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28
Q

Necrosis

A

death of living cells due to an irreversibly cell injury

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29
Q

Caseous necrosis

A

obliteration of underlying tissue architecture

-formation fo amorphous granular necrotic debris

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30
Q

Coagulative necrosis

A

preservation of cellular outlines

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31
Q

Fat necrosis

A

necrosis seen in adipose (fat) tissue

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32
Q

Liquefactive necrosis

A

seen after bacterial infection involving CNS

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33
Q

Effusion

A

excessive fluid in mesothelial lined cavity

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34
Q

Pleurisy

A

inflammation of pleura

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35
Q

Pemphigus vulgaris

A

supra basal acantholytic blister

  • acantholytic keratinocytes
  • IgG antibodies various desmogleins
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36
Q

Bullous pemphigoid

A

sub epidermal nonacantholytic blister

  • eosinphil
  • full-thickness epidermis w/intact intercellular junctions (key distinction)
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37
Q

Mesothelioma

A

cancer of mesothelium

  • long slender and curved microvilli
  • asbestos exposure or smokers
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38
Q

Malignant mesothelioma

A

Epitheloid malignant mesothelioma

  • sarcomatid maligna mesothelioma
  • Biphasic malignant mesothelioma
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39
Q

Barrett’s Esophagus

A

Complicatoin of chronic GERD

  • goblet cells
  • stratified squamous changes to simple columnar
40
Q

Tracheal metaplasia

A

metaplastic squamous epithelium

41
Q

Aterosclerosis

A

deposits of yellow plaque form (contain cholesterol, lipid material, & lipophages (Macrophages))

42
Q

Hyperthyroidism

A

overproduction of thyroid hormone

43
Q

Graves Disease

A

Most common form of hyperthyroidism

  • antibodies in blood mimic thyroid stimulating hormone
  • excessive thyroid hormone
44
Q

Hypothyroidism

A

low levels of thyroid hormone secretion

45
Q

Renal Fanconi syndrome

A

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
Q

Celiac Disease

A

disorder to small intestine

-cant eat food with gluten

47
Q

Bronchitis

A
  • acute/chronic inflammation of bronchial tubes

- leading cause is cig smoking

48
Q

Salivary Gland swelling

A

swelling w/inflammation (disladenitis)

-saliva can’t exit mouth

49
Q

Trachoma

A

Form of pink eye

-caused by bacteria chlamydia trachomatis

50
Q

Parkinsons disease

A

Lewy bodies

  • lewy neurites
  • glosis (cells-astrocytes)
51
Q

Alzheimer’s Disease

A

B-amyloid plaque

-neurofibrillary tanges

52
Q

Depression

A

Low levels of serotonin, dopamine, norepinephrine

53
Q

Treatment of Depression

A

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
Q

Huntington Chorea

A

Loss of GABA producing neurons

55
Q

Fibrous Astrocytoma

A

Brain tumors

-account for 80% of adult primary brain tumors

56
Q

Multiple Sclerosis

A

axon organelle acummulation

  • axon cytoskeleton disruption
  • cytoplasmic tongue swelling (cells-oligodendrocytes)
57
Q

Guillain-Barre Syndrome

A

Myelin destruction

-majority of infiltrating cells are lymphocytes

58
Q

Rabies infection

A

caused by rabies virus

  • Negri Bodies
  • perivascular cuff
  • lymphocyte focus
  • babes nodules (cells-glia)
59
Q

Reuptake mechanism

A

5-HT reuptake receptors

-dendrites become more prevalent

60
Q

Hirschsprung’s disease (HD)

A

aganglionosis

-absence of ganglia in wall of bowel

61
Q

Hereditary Sensory motor neuropathy type III (HSMN III)

A

loss of myelination around neurons in PNS

-atoxic or scoliosis

62
Q

Encephalocele

A

defect in calvarium as bone of skull is formed

-CSF, meninges, brain tissue may protrude

63
Q

Glioblastoma

A

highly malignant tumor in brain

  • arises from neoplastic astrocytes
  • palisading
64
Q

Neurogenerative disease

A

diseases characterized by progressive degeneration & death f nerve cells
EX: Alzheimers and Parkinsons

65
Q

Demyelinated Disease

A

Decreased/lost transmission of electrical impulses along nerve fibers
Ex: Guillain-Barre and Multiple Sclerosis

66
Q

Actinic Keratosis

A

solar elatosis

  • degenerative skin condition from to much sun light
  • loose, wrinkly, dry, sagging skin
67
Q

Tendinosis

A

Degenerative disorder that occurs within substance of a tendon
-assoicated with age or overexertion

68
Q

Whipple Disease

A

Multisystemic disease caused by infection of bacillus Tropheryma Whippleii

  • primarily affects small intestine
  • increased # of macrophages
69
Q

Cirrhosis

A

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
Q

Collagenopathies

A

caused by deficit/abnormality in production of specific collagen
-most attracted to mutation is genes encoding alpha chains in collagen

71
Q

Disorder of basement membranes are involve in several diseases

A
  • Renal Function
  • Cancer
  • Genetic Diseases
  • Autoimmune diseases (Goodpasture syndrome)
72
Q

Ehler’s Danios Syndrome

A

Mutated Collagen

  • hyperextensible skin
  • hypermobile joints
73
Q

Marfans Syndrome

A

Results from mutation in FBN1 gene encoding Fibrillin

  • fragmented elastic tissue
  • loose mucopolysaccharides
  • Fibrosis
74
Q

Fibrosis Process

A

excessive deposition of collagen

75
Q

Pulmonary Fibrosis

A

connective tissue deposition

  • occurs b/w 50-70 yr old typically
  • more at risk if suffer from lung damage
76
Q

Liver Cirrhosis

A

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
Q

Cardiac Fibrosis

A

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
Q

Osteogenesis imperfecta

A

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
Q

Soft tissue tumors

A

tumors of support cells

80
Q

Lipoma (benign tumor)

A

due to abnormal growth of adipocytes

-malignant tumors of adipocytes are called liposarcomas

81
Q

Fibroma Pendulans

A

benign tumors of fibroblasts called fibromas

82
Q

First Degree burn

A

Epidermis only

-redness, pain, edema (sunburn)

83
Q

Second Degrée burns

A
  • epidermis and dermis

- intense pain, redness, and blistering

84
Q

Third degree burns

A

involve bone

-most commonly seen in electrical injury

85
Q

Cancer- Sunlight and skin

A

Ultraviolet A (long wavelength)

  • causing aging of skin, tanning and sometimes sunburn
  • penetrates deeply and may contribute to skin cancer
86
Q

Ultraviolet B

A

(shorter wavelength than A

  • sunburn, premature aging, and wrinkling
  • responsible for basal/squamous cell carcinomas
  • play a role in malignant melanoma
87
Q

Melanoma

A

deadliest skin cancers

-hard to treat, can go into remission then resurface years later

88
Q

Basal cell carcinoma

A

most common skin malignancy

  • develops slowly, rarely metastasizes
  • nearly 100% curable if diagnoses early and & treated properly
89
Q

Squamous Cell carcinoma

A

comes from cells in s. spinosum

  • grows faster than basal cell carcinoma
  • can mestastasize
90
Q

Carcinoma

A

cancer involving epithelial cells

91
Q

Epidermolysis bullosa

A

characterized by blistering following minor trauma

-due to defects in keratinocyte intermediate filaments

92
Q

Warts

A

on dorsal of hands, near nails

-involves epidermal hyperplasia, eosinophilic cytoplasmic inclusions, and basophilic nuclei

93
Q

UV radiation

A

exposure of unprotected skin to UV light can cause damage, even in absence of sunburn

94
Q

Skin cancers

A

Basal cell carcinomas

-squamous cell carcinoma

95
Q

Malignant mesothelioma

A

life threatening

  • originates in melanocytes
  • chemotherapy and surgery are involved to treat
96
Q

Keloids

A

swelling in skin bc of increased collagen formation in scar tissue
-common in African Americans

97
Q

Psoriasis

A

inflamed patches of skin with white, flaky layer on top

-due to increase in acitvyt of cells in Malpighian layer of epidermis