Clinical Integration Flashcards

1
Q

What are the 6 major categories of integral membrane proteins?

A

Pumps, channels, receptors, linkers, enzymes, and structural proteins

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2
Q

Cystinuria

A

Hereditary condition caused by abnormal carrier proteins that are unable to remove cysteine from urine, which causes kidney stones

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3
Q

Tetrodotoxin

A

Produced by puffer fish. Inactivates the sodium channels by occupying the sodium binding sites in nerve, paralyzing their prey (no action potential). Neurotoxin that leads to dizziness, ataxia, respiratory and death.

Membrane protein disorder.

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4
Q

Cholera

A

Exotoxin produced by vibrio cholera. Alters Gs protein so that it is unable to hydrolyze it’s GTP molecule. This increases cAMP levels in the surface cells if the intestine, leading to excessive sodium ions and water loss, leading to diarrhea.

Membrane protein disorder.

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5
Q

Venoms

A

Inactivate acetylcholine receptors located on the skeletal muscle sarcolemma at neuromuscular junctions

Membrane protein disorder.

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6
Q

Autoimmune diseases

A

Produced antibodies that specifically bind to certain plasma membrane receptors causing them to become activated (hyperthyroidism in Grave’s disease)

Membrane protein disorder.

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7
Q

Hereditary Spherocytosis

A

Genetic defect that is characterized by fragile, misshaped RBCs (Spherocytes). This results from a defective spectrum that have decreased ability to bind to band 4.1 protein. Leads to anemia because RBCs are being destroyed in the spleen

membrane protein disorder.

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8
Q

Cystic Fibrosis

A

AR disorders caused by a mutation in the CFTR gene on chromosome 7. Leads to exocrine glands secreting abnormally viscid mucus because the Chloride channels are defective

Membrane protein disorder

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9
Q

Downs Syndrome

A

Extra chromosome at 21. Characterized by mental retardation, short height, stubby appendages, and congenital heart defects. Can lead to early onset Alzheimer’s

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10
Q

Klinefelters

A

XXY. Characterized by infertility, variable degree of masculinization, small testis.

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11
Q

Tuners Syndrome

A

XO. Short, sterile, and other abnormalities.

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12
Q

Transformed cells

A

Cells that have lost their ability to respond to regulatory signals controlling the cell cycle and may undergo division indefinitely (cancer)

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13
Q

Vinca Alkaloids

A

Arrest transformed cells in mitosis and keep them from replicating. Basis of chemo

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14
Q

P53

A

Cell cycle inhibit that stops the cycle and allows the nucleus to repair itself before moving on to division.

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15
Q

Lipoma

A

Very common benign tumor. usually found on the subcutaneous fatty tissue of the trunk or limbs. Soft, well defined lesions that are painless

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16
Q

Dysplasia

A

Repaid proliferation of epithelial cells with failure to differentiate

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17
Q

Carcinoma in situ

A

Carcinoma that is limited to the epithelia, does not invade the connective tissue.

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18
Q

Metaplasia

A

Complete reversible change of one mature epithelium with another. Example: Barrett’s esophagus

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19
Q

Barrett’s esophagus

A

Change in esophageal epithelium following damage

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20
Q

What is the function of lysosomes?

A

Digestion of macro molecules. they are stomachs or suicide bags

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21
Q

Lysosomal storage Diseases

A

Hereditary condition in which the synthesis of specific lysosomal acid hydrolase is impaired, meaning lysosomes cannot degrade certain components, interfering with cell function

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22
Q

Tay-Sachs

A

Lack hexosaminadase A (HexA) which digests glycolipids. Leads to build up of the lipid GM2 which shuts down the nervous system.

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23
Q

What are some symptoms of Tay-Sachs?

A

Enlarged head due to build up of storage in the brain, concentric lamellar bodies, increased muscle tome, and exaggerated Moro reflex. Characteristic cherry-red macular spot

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24
Q

Glycogen Storage Disease

A

Lysosomal storage disease. Leads to build up of glycogen in the liver and muscle

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25
Hurler's Syndrome
GAGs accumulate in many tissues and organs. Lysosomal storage disease
26
Kartagener's Syndrome
AR disorder involving mutation in genes that code for ciliary protein dynein. A patient with this lacks most of the inner and outer dynein arms.
27
What are some symptoms of Kartagener's?
Situs inversus-organ reversal due to faulty migration during embryogenesis recurrent pulmonary infections-inability to move mucus Sterility in males-retarded sperm movement
28
What connects the basale to the basal membrane?
Hemidesmosomes
29
What connects keratinocytes?
Desmosomes
30
What is the normal rate of it over for cells?
2-4 weeks. It takes 2-4 weeks for cells to move from the bottom to the top where they are sloughed off
31
Transdermal Patch
Patch that is used as a means of delivering medication through the skin (Nicotine patch, steroid patch)
32
Epidermal would healing
Basal cells of epidermis surround the would, break contact with the basement membrane, and migrate across the wound. Migration stops when the cells tough each other (contact inhibition)
33
Epidermal Growth Factor
Stimulates basal stem cells to divide and replace the lost cells that have moved to the wound. They will divide and thicken the new epithelium
34
4 phases of Deep Wound Healing
Inflammatory, migratory, proliferative, maturation
35
Inflammatory Phase
Blood clot attached loosely to the edge of the cut. Vasodilation and increased permeability allow neutrophils and monocytes to enter the area and eliminate microbes and dying tissue
36
Migratory Phase
As the clot becomes a scab, epithelial cells migrate beneath it to bridge the wound. Fibroblasts synthesize scar tissue and damaged vessels regrow. This is granulation tissue
37
Proliferative Phase
Growth of epithelial tissue at random. Continued growth of vessels
38
Maturation Phase
Scab sloughs off. Epidermis is restored to normal thickness. Collagen is more organized. Fibroblasts decrease. This is a fibrosis scar.
39
What makes up fibrosis scar tissue?
Collagen and glycoprotein
40
Hypertrophic Scar
Scar that is more raised than normal, but within the normal boundaries
41
Keloid Scar
Scar in excess of the boundary
42
Hyperkeratosis
Hyperplasia of the horny layer (stratum corneum) of the skin or cornea
43
Parakeratosis
Retention of nuclei in the stratum corneum of the skin
44
Acantholysis
Loss of intracellular connections resulting in loss of cohesion between keratinocytes
45
Acanthosis
Epidermal hyperplasia in the stratum Spinosum
46
Complement System
Group of proteins that effect lysis of cells and Ag-Ab complexes
47
Psoriasis
Increased rate of proliferation of mitosis cells leading to a thickened epidermis, leading to shedding of the epidermis. Chronic inflammatory and proliferative disorder
48
Bullous Pemphigoid
Chronic, auto-immune blistering disease in the skin and mucous membranes.
49
What causes bullous Pemphigoid?
Autoantibodies specific for hemidesmosomes bind to the basement membrane and stimulate leukocytic infiltration. Eosinophils then release proteases that degrade hemidesmosomes and blisters form
50
Bulla
Large, fluid filled vesicle
51
Pempighus Vulgaris
Rare autoimmune disordered affecting the epidermis and mucosal epithelium. Disrupts desmosomes, leading to a separation of epidermal cells and atrophy of the prickle layer. Blisters form, giving a fish net appearance.
52
Pemphix
Blister/bubble
53
Albinism
Autosomal recessive. Loss of pigmentation of the skin, hair, and eyes. Results from a mutation in genes that regulate melanin synthesis and distribution of melanocytes inhibiting their ability to pick up tyrosine (tyrosine leads to DOPA which creates melanin)
54
Ocular Albinism
Eyes effected
55
Oculocutaneous Albinism
Eyes and skin pigment
56
Vitiligo
Autoimmune dipigmentation disorder leading to the destruction of melanocytes.
57
What are some treatments for vitiligo?
Topical steroid therapy, photo chemotherapy, dipigmentation, skin graft, micro pigmentation, melanocytes transplant
58
Squamous Cell Carcinoma
Malignant tumor of keratinocytes caused by DNA damage from UV (P53 inactivated). Leads to hyperkeratosis and parakeratosis
59
What are some factors that increase your likelihood to get squamous cell carcinoma?
Age (older than 70), skin color (fair skinned more likely) tobacco, carcinogens, radiation
60
Squamous Pearls or Swirls
Islands in the skin with undifferentiated cells resembling basal cells around the perimeter. Cauliflower like growth.
61
Basal Cell Carcinoma
Caused by UV light. Growth has rolled out margins.
62
Palisade Arrangement
Basal cells are arranged around tumor cells like a fence
63
Malignant Melanoma
Exposure to UV lights caused an increased number of melanocytes with large, atypical morphology arranged at the demo-epidermal junction. If it invades the dermis, it can be fatal.
64
ABCs to clinical diagnosis of spots on skin
``` Asymmetry Border Irregularity Color variation Diameters (>6mm) Elevation or evolving of current lesion ```
65
What is another name of neurofibromatosis?
Von recklinghausens disease (not a skin disease!)