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D2 - FALL - Par 3 > Pathology - Anderson L1/L2 > Flashcards

Pathology - Anderson L1/L2 Flashcards

1
Q

What are mendelian disorders?

A

mutations in single gene

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2
Q

What is an autosomal dominant disorder of the CT, manifested principally by changes in the skeleton, eyes, and CV sys?

A

marfan’s syndrome

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3
Q

What defect causes Marfan’s syndrome?

A

defective extracellular glycoprotein called *fibrillin-1, encoded by genes FBN1 or FBN2.

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4
Q

What are the clinical features of Marfan’s syndrome? The life threatening features?

A
  • Tall with long extremities and digits, joint laxity, chest deformities (pectus excavatum, pigeon-breast), *bilateral subluxation or dislocation of lens of eye (ectopia lentis), *high arched palate, *arachnodactyly
  • Life-threatening feature: mitral valve prolapse; dilation of ascending aorta due to cystic medionecrosi (w/ hemorrhage via vasa vasorum), which may lead to *dissecting aneurysm–defects in tunica media of aorta
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5
Q

What are the forms of neurofibromatosis (basically what genes)?

A
  • NF1 gene - most common; inc risk of malignant peripheral nerve sheath tumor; located on chromosome 17
  • NF2 gene - bilateral acoustic neuromas; located on chromosome 22
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6
Q

Clinical features of neurofibromatosis?

A

multiple neurofibromas on skin, cafe-au-lait pigmentation, mental retardation, Lisch nodules (pigmented spots on iris)

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7
Q

3 examples of autosomal recessive diseases?

A

Tay-Sach’s, cystic fibrosis, phenylketonuria

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8
Q

General details of Cystic Fibrosis (exclude the clinical features for now.)

A
  • Disorder of ion transport of epithelial cells; affects fluid secretion in exocrine glands & epithelial linings
  • Most common lethal genetic disease affecting Caucasian pop.
  • Abnormal func of epith Cl- channel prot encoded by cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7q31.2
  • Abnormally viscous secretions—obstructs organ passages
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9
Q

Clinical feature of cystic fibrosis?

A
  • Clinical features: chronic lung disease, pancreatic insufficiency, steatorrhea, malnutrition (malabsorption & vit A, D, E, & K deficiencies), hepatic cirrhosis, intestinal obstruction, & male infertility
  • More features:
    • Sweat gland ducts: Hypertonic sweat – dec reabsorption of NaCl
    • Resp & intestinal epith: loss or reduction of Cl- secretion into lumen & inc active luminal Na absorption
    • Inc H2O reabsorption lowering the H2O of surf fluid layer coating mucosal cells.
    • Lungs – dehydration leads to defective mucociliary action & accum of hyperconcentrated, viscid secretions (recurrent pulm infections—pneumonia)
    • Pancreas – bicarb transport = abnormal; dec luminal pH; inc mucin precip & plugging of ducts; inc binding of bact & pancreatic insufficiency
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10
Q

Tx for cystic fibrosis?

A
  1. antimicrobial therapy
  2. pancreatic enzyme replacement
  3. bilateral lung transplant
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11
Q

What causes phenylketonuria? And what are the effects?

A

lack of phenylalanine hydroxylase (PAH) –> hyperphenylalaninemia & phenylketonuria

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12
Q

What are the clinical features of phenylketonuria?

A
  • normal at birth; mental retardation shows by 6 mos

- seizures, neurological abnormalities, dec pigmentation of hair & skin, eczema, mousy/musty odor

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13
Q

What are examples of autosomal dominant disorders?

A

Marfan’s syndrome, neurofibromatosis

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14
Q

Tx for phenylketonuria?

A

dietary restriction of phenylalanine

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15
Q

What are polygenic disorders caused by? Examples of polygenic disorders?

A
  • Interactions betw variant forms of genes & environ factors

- diabetes mellitus, hypertension, schizophrenia, atherosclerosis

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16
Q

Examples of X-linked disorders?

A

hemophilia, Bruton’s agammaglobulinemia, Duchenne’s muscular dystrophy

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17
Q

What is a euploid?

A

exact multiple of haploid or 23

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18
Q

What is aneuploidy usu a result of?

A

error in meiosis or mitosis (nondisjnction); not exact multiple of 23

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19
Q

What is mosaicism?

A

2 or more pop of cells w/ diff chromosomal complements due to nondisjunction in early mitosis.
o Usu involves sex chromosomes & may lead to trisomy & monosomy

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20
Q

What is a ring chromosome?

A

Special form of deletion produced when break occurs at both ends of chromosome; damaged ends fuse into “ring.”

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21
Q

What is translocation?

A
  • A segment of one chromosome is transferred to another.

- 2 types: balanced reciprocal; centric fusion (robertsonian)

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22
Q

Most common chromosomal disorder? And what is its most common cause?

A

Down Syndrome (Trisomy 21); *meiotic nondisjunction of chromosome 21

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23
Q

What are the clinical features of Down’s Syndrome?

A

epicanthic folds, flat facial profiles, mental retardation, cardiac malformations, infections, inc risk of acute leukemia

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24
Q

Tell me the general details about Klinefelter Syndrome (excluding clinical features).

A
  • Male hypogonadism (most common cause)—most pts are 47, XXY
  • have *barr bodies in nucleus of epithelial cells from oral mucosa
  • Inc risk of breast cancer, extragonadal germ cell tumors, & autoimmune diseases (i.e. lupus)
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25
Q

Clinical features of Klinefelter Syndrome?

A
  • hypogonadism, inc in length betw soles & pubic bone, reduced facial, body, & pubic hair, gynecomastia (development of breast tissue), testicular atrophy, reduced testosterone
  • Oral manifestations = taurodontism
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26
Q

Tell me the general details about Turner Syndrome (excluding clinical features).

A
  • 45,X (57%); 43% are 45, X mosaics or 46,X,i(X(q10) – (isochromosome of long arm of X chromosome w/ deletion of small arm).
  • Primary hypogonadism in females.
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27
Q

Clinical features of Turner Syndrome?

A

Short stature, *swelling of nape of the neck (webbing), low posterior hairline, increased carrying angle of arms (cubitus valgus), *shield-like chest w/ widely spaced nipples, cardiovascular malformations, lack of secondary sex characteristics, *streak ovaries (streaks of fibrous stroma devoid of follicles), *amenorrhea (absence of menstruation).

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28
Q

Tell me the general details about Fragile X Syndrome (excluding clinical features).

A
  • *Triple repeat mutation (repeating sequence of 3 nucleotides, which disrupts its function; most common cause of familial mental retardation.)–usu C-G-G
  • Discontinuity of staining or constriction in the long arm of the X chromosome.
  • All males are affected.
  • 50% of carrier females show mental retardation and 30% will have ovarian failure before age 40.
  • Males = inc risk of progressive neurodegeneration in 60’s.
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29
Q

Clinical features of Fragile X Syndrome?

A

Moderate to severe mental retardation, long face w/ large MD, large everted ears, & large testicles.

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30
Q

Details & clinical features of mutations in mitochondrial genes?

A
  • Maternal inheritance only.
  • Primarily affect organs that are dependent upon oxidative phosphorylation (skeletal muscle, heart, and brain.)
  • Example: Leber hereditary optic neuropathy, leading to progressive blindness
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31
Q

What are genomic imprinting disorders? Examples of these disorders?

A
  • Diseases arising from the inactivation of maternal (maternal imprinting) or paternal (paternal imprinting) genes during gametogenesis.
  • ex: Prader-Willi syndrome, Angelman syndrome
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32
Q

What disease is associated with folic acid deficiency?

A

anencephaly

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33
Q

What are perinatal infections??

A

infections acquired transcervically or transplacentally

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34
Q

Prematurity complications can include…?

A

*hyaline membrane disease, intraventricular & germinal matrix hemorrhage

35
Q

What are associated factors of Sudden Infant Death Syndrome (SIDS)?

A

prone sleeping position, sleeping on soft surfaces, & thermal stress

36
Q

What are examples of benign pediatric neoplasms?

A
  1. nevus flammeus
  2. hemangioma
  3. lymphangiomas
  4. sacrococcygeal teratomas
37
Q

benign pediatric neoplasm associated w/ capillary malformation of the skin?

A

nevus flammeus

38
Q

benign pediatric neoplasm associated w/ rapid enlargement followed by gradual progression? (most common tumors of infancy)

A

hemangioma

39
Q

benign pediatric neoplasm associated w/ lymphatic vessels?

A

lymphangiomas (cystic hygroma)

40
Q

benign pediatric neoplasm associated w/ the most common teratoma and occurence in F>M?

A

sacrococcygeal teratomas

41
Q

most primary tumor of kidney in children?

A

Wilm’s tumor

42
Q

where does a neroblastoma arise from?

A

from primordial neural crest event, with 40% arising from adrenal medulla.

43
Q

What is the clinical course of coal workers’ pneumoconiosis?

A

coal workers’ pneumoconiosis; increasing pulmonary dysfunction, pulmonary hypertension, cor pulmonale.

44
Q

most common chronic occupational disease in the world? and what is its cause?

A

silocosis; inhalation of crystalline silica (including quartz)

45
Q

what is the primary effector of silicosis?

A

macrophage mediator TNF

46
Q

What region does silicosis usually affect? If silicosis progresses, what are some consequences?

A

upper lobes of lungs; more susceptible to TB

47
Q

What is the morphology of silicosis?

A

silicotic nodules (concentric hyalinized collagen fibers surrounding amorphous center)

48
Q

What is the clinical course of silicosis?

A

pulmonary hypertension & cor pulmonale; inc risk of TB

49
Q

Occupational exposure to asbestos is linked to?

A

Occupational exposure to asbestos is linked to:
• Parenchymal interstitial fibrosis
• Localized fibrous plaques or diffuse fibrosis of the pleura
• Pleural effusions (serous or bloody)
• Bronchogenic carcinoma
• Malignant pleural and peritoneal mesotheliomas
• Laryngeal carcinoma

50
Q

Where region does asbestosis usually affect? What is the morphology of asbestosis?

A
  • Effects lower lobes
  • Pleural plaques of collagen w/ Ca2+
  • Asbestos bodies = golden brown rods w/ translucent center
51
Q

What is asbestosis and smoking associated with? What is it not associated with?

A

Associated smoking inc risk bronchogenic carcinoma, but NOT mesotheliomas

52
Q

Families of asbestos workers are also at risk. T/F?

A

True.

53
Q

What are examples of chemical injuries?

A

ethanol, carbon monoxide

54
Q

What are the effects of acute alcoholism?

A

affects mainly the CNS; may have reversible hepatic (fatty change or steatosis) & gastric changes (gastritis, ulceration)

55
Q

What are the effects of chronic alcoholism?

A

cirrhosis of the liver, alcoholic hepatitis, inc risk of hepatocellular carcinoma

  • alcoholic hepatitis hallmark = Mallory bodies
  • is an inflammation process, not infection like HepB
56
Q

Why do we get carbon monoxide poisoning?

A
  • Hb’s affinity to CO is 200x greater than for O2

- CarboxyHb = very stable

57
Q

What occurs in acute CO poisoning?

A
  • generalized cherry red skin & mucous membranes

- brain edema w/ punctuate hemorrhages & hypoxia induced neuronal changes

58
Q

What occurs in chronic CO poisoning?

A
  • hypoxoa & widespread ischemic changes in CNS, esp basal ganglia & lenticular nuclei
  • possible recovery, but often w/ permanent neurological dmg
59
Q

What are examples of metal pollutants?

A

lead, arsenic

60
Q

What happens when you have lead poisoning?

A
  • hard tissue deposits
  • peripheral neuropathies (more common in adults) & CNS abnormalities (more common in kids)
  • hypochromic microcytic anemia (small RBCs)
  • stippling of RBCs
  • “lead line” @ gingival margin
  • renal problems
61
Q

What is the “lead line” that forms at the gingival margin during lead poisoning?

A
  • oral flora has hydrogen sulfide, and lead reacts w/ it & forms lead sulfide
  • same w/ mercuric sulfide, which leads to destruction of alveolar bone (rapid bone loss & PD)
62
Q

Where do you get arsenic poisoning and what happens during it?

A
  • mines & smelting industry
  • Acute: problems in GI, CV, & CNS
  • Chronic: hyperpigmentation & hyperkeratosis (usu on palms & soles)
  • premalignant for basal & squamous cell carcinomas
63
Q

What are examples of industrial or environmental agents that cause diseases?

A

organic solvents, polycyclic hydrocarbons, dioxins, vinyl chloride

64
Q

What are some examples of organic solvents? What are their acute and chronic effects? Benzene exposure causes what?

A
  • benzene, chloroform, carbon tetrachloride
  • Acute: dizziness, confusion
  • Chronic: CNS depression, coma
  • benzene exposure inc risk of leukemia
65
Q

Where do we get polycyclic hydrocarbons & what does it cause?

A
  • combustion of fossil fuels

- lung & bladder cancer

66
Q

Where do you find Dioxins and what do they cause?

A
  • in bleached coffee filters

- skin disorders, liver & CNS abnormalities

67
Q

Where do we find vinyl chloride and what does it cause?

A
  • in PVC pipe

- angiosarcoma of the liver

68
Q

What are examples of physical injuries?

A

abrasions, contusions, lacerations, incisions, thermal burns

69
Q

Clinical significance of thermal burns depends on what variables?

A
  1. depth of burn
  2. % of body surface involved
  3. internal injuries
  4. promptness & efficacy of therapy
70
Q

What is a full thickness burn?

A

3rd/4th degree burn; white or charred, dry, anesthetic

- total destruction of epidermis & dermis

71
Q

What is a partial thickness burn?

A

1st/2nd degree burn; pink, mottled w/ blisters & is painful

72
Q

What are the effects of ionizing radiation?

A
  • DNA dmg
  • Fibrosis – replacement of dead parenchymal cells by connective tissue and the formation of scars and adhesions
  • Organ Sys dmg
73
Q

What are the most sensitive organs to ionizing radiation?

A

gonads, hematopoietic & lymphoid systems, lining of GI tract

74
Q

What are the consequences of a vit A deficiency?

A
  • deficiency in infancy = blindness

- other symptoms: dry skin, conjunctiva, ulceration of cornea

75
Q

What are the consequences of a vit D deficiency?

A
  • Deficiency in infants results in rickets - irritability, growth retardation, prominence of costochondral junctions (“rachitic rosary”), and bowing of the long bones
  • Adults: osteomalcia (weak bone, diffuse skeletal pain, susceptible to fractures)
76
Q

What are the consequences of a vit C deficiency?

A

scurvy (inadequate collagen syn. (weakened vasc. Walls), petechial hemorrhage, ecchymosis, subperiosteal hemorrhages

Oral probs: generalized gingival swelling w/ spontaneous hemorrhage (scorbutic gingivitis), ulcertation tooth mobility, periodontal bone loss

77
Q

What are the consequences of a vit B1 (Thiamine) deficiency?

A

aka beriber; CV probs & neruollogical abnormalities (i.e. Wernicke’s encephalopathy)

78
Q

What are the consequences of a vit B2 (Riboflavin) deficiency?

A

oral probs: glossitis, angular cheilitis, sore throat, and swelling and erythema of the oral mucosa, maybe normocytic, normochromic anemia, also candidiasis

79
Q

What are the consequences of a vit B3 (Niacin) deficiency?

A

Deficiency is known as pellagra

  • Triad: dermatitis, dementia, diarrhea
  • Oral: Stomatitis, glossitis (red, smooth, raw tongue)
80
Q

What are the consequences of a vit B6 (Pyridoxine) deficiency?

A
  • weakness, dizziness, seizures

- oral: cheilitis, glossitis

81
Q

What is penetrance?

A

relative tendency to clinically express genotype–high genotype = very likely to show phenotypically what is expressed genotypically

82
Q

What is expressivity?

A

variations in clinical manifestations w/ positive genotype– high expressivity = many diff things associated w/ gene mut.

83
Q

What is a pleiotropy?

A

Many effects from mutation of one gene (ex. Marfan’s syndrome)

84
Q

What is heterogeneity?

A

Many different genes causing one disease (retinitis pigmentosa)

D2 - FALL - Par 3 (10 decks)

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