Pathology Flashcards

1
Q

Mutation in sickle cell anemia

A

Glutamic acid to valine at amino acid 6 of beta chain

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2
Q

Most common salivary gland neoplasm

A

Pleomorphic adenoma

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3
Q

What is the composition of Hb Barts?

A

4 gamma chains

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4
Q

Mole with greatest malignant potential

A

Junctional nevus

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5
Q

child presents with an array of macules, papules, vesicles, and bullae, reddish, with pale eroded center involving the extremities, lips and oral mucosa in a symmetric pattern. There was intake of penicillin and sulfonamides for urinary tract infection. The patient most likely has:

A

Erythema multiforme

  • target lesions described
  • associated with drug intake of sulfonamides and penicillins
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6
Q

Differentiation of pemphigus and bullous pemphigoid

A

Pemphigus has positive nikolsky sign (due to dissolution of intercellular attachments by autoantibodies).

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7
Q

Patient came in due to urticaria and you also noted the presence of grouped vesicles. Further examination revealed granular deposits of IgA at the tips of dermal papillae. The patient most likely has..

A

Celiac disease - case described findings in dermatitis herpetiformis associated with celiac disease
- tx gluten free diet

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8
Q

Patient presented with honey colored crusts. What would you expect on microscopic examination?

A

Accumulation of neutrophils beneath the stratum corneum (Subcorneal pustule)

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9
Q

Pterygium vs Pingueculum

A

Pingueculum does not invade the cornea, unlike pterygium

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10
Q

Leading cause of irreversible blindness in the developed world

A

Age related macular degeneration

- oxidative stress -> degeneration of retinal pigment epith

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11
Q

Most common primary intra-ocular malignancy of children

A

Retinoblastoma

  • presents usually as leukocoria
  • characteristic: Flexner Wintersteiner rosettes
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12
Q

Most common breast mass in women younger than 35 y.o

A

Fibroadenoma

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13
Q

Most common cause of bloody nipple discharge in women younger than 50 y.o

A

Intraductal papilloma

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14
Q

Most common type of breast cancer

A

Invasive ductal carcinoma

- characteristic grating sound due to small central foci or streaks of chalky white elastotic stroma

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15
Q

Most common cause of bilateral breast cancer

A

Invasive lobular carcinoma

- signet ring cells in indian file pattern

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16
Q

Most common cause of hydronephrosis in infants and children

A

Ureteropelvic junction obstruction

  • usually at the left ureter
  • usually bilateral in infants, unilateral in adults
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17
Q

Explanation behind ureteral obstruction in pregnancy

A
  • relaxation of ureteral smooth muscle due to progesterone

- enlarging fundus causes pressure on ureters at the pelvic brim ( one area of constriction)

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18
Q

Histopathologic hallmark of primary sclerosing cholangitis

A

Onion skin fibrosis

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19
Q

Most common cause of bladder adenocarcinoma

A

Patent urachus

  • failure of obliteration of fetal allantois
  • presents as drainage of urine from the umbilicus in newborn
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20
Q

Clinical triad of acute cystitis

A

Dysuria, suprapubic pain, frequency

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21
Q

Causative agent of condyloma acuminata

A

HPV 6 and 11

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22
Q

Characteristic morphology seen in Bowen disease

A

Erythroplasia of Qeyrat: multiple shiny, red, sometimes velvety plaque
Intact basement membrane

*associated with visceral malignancies

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23
Q

Type of penile carcinoma in situ that can progress to invasive carcinoma

A

Bowen disease

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24
Q

Protective factor against squamous cell CA of penis

A

Circumcision

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25
Q

True or False

Neonatal testicular torsion is associated with an anatomic defect

A

False

Adult testicular torsion is the one associated with bilateral defects (BELL-CLAPPER deformity)

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26
Q

Most common benign paratesticular tumor

A

Adenomatoid tumor

- nodules at upper pole of epididymis

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27
Q

True or False

Malignant paratesticular tumors are usually due to rhabdomyosarcoma in children

A

True
In adults, due to liposarcomas.
Malignant paratesticular tumors located at the distal end of the spermatic cord (proximal usually benign lipomas)

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28
Q

Patient with testicular tumor, mass was homogenous, yellow white and mucinous. Histopath exam revealed the presence of structures resembling endodermal sinuses, the tumor is most likely a :

A

Yolk sac tumor

  • structures resembling endodermal sinuses are schiller duval bodies
  • tumor is also associated with markers: AFP, and alpha 1 antitrypsin
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29
Q

True or False

In the postpubertal male, all teratomas are regarded as malignant unless proven otherwise

A

True

  • in children usually benign
  • presents with painless enlargement of the testis
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30
Q

Testicular mass was excised in a patient with precocious puberty and gynecomastia, and was noted to grossly be golden brown with a homogenous surface. What would be the morphologic finding upon HP?

A

Rod shaped crystalloids of Reinke - seen in Leydig cell tumor

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31
Q

Patient came in due to testicular mass, no other signs or symptoms noted. Mass showed distinct trabeculae that formed cordlike structures and tubules, what other findings do you expect on examination?

A

Presence of crystalloids of Charcot-Bottcher (Sertoli cell tumor)

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32
Q

Most common form of testicular neoplasm in men over 60 y.o

A

Testicular lymphoma

- aggressive non hodgkins lymphoma

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33
Q

Most common form of prostatitis

A

Chronic abacterial prostatitis

- clinically indist from chronic bacterial prostatis, but with no history of recurrent UTI

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34
Q

Hormone responsible for hyperplasia in BPH

A

Dihydrotestosterone

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35
Q

Hallmark finding in BPH

A

Nodular hyperplasia

*originates from periurethral transition zone

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36
Q

The presence of ____________ are virtually diagnostic for prostate adenoCA

A

Osteoblastic metastases

  • since its usually asymptomatic and detected late
  • mets to axial skeleton (LUMBAR > prox femur > pelvis > thoracic spine > ribs)
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37
Q

Complication of PID leading to adhesions between small bowel and pelvic organs (violin string adhesions)

A

Fitz Hugh Curtis syndrome

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38
Q

True or False

Chronic atrophic vulvitis can progress to carcinoma

A

True
AKA Lichen sclerosus
- Atrophy of epidermis, Hydropic degen of basal cells, Collagenous fibrous dermis, lymphocytic bandlike infiltrate (cardinal feats)
- carcinoma is complication

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39
Q

Greatest risk factor for vaginal cancer

A

Previous carcinoma of cervix or vulva

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40
Q

Most common pathogen in placental infections

A

Group B streptococcus (from ascending bact infection in PROM)

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41
Q

Most common sites of metastasis of choriocarcinoma

A

Lungs and vagina

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42
Q

CSF finding in Guillain Barre syndrome

A

Albuminocytologic dissociation : increased CSF protein with no associated increase in WBC

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43
Q

Gene mutation in Spinal muscular atrophy (infantile motor neuron disease)

A

SMN 1

*also associated with destruction of anterior horn cells

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44
Q

Genetic mutation in disease characterized by the presence of ring fiber (subsarcolemmal band of cytoplasm) and sarcoplasmic mass

A

Described is Myotonic dystrophy- results from CTG trinucleotide repeats

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45
Q

Most common primary malignant bone tumor

A

Osteosarcoma

  • usually in metaphysis of long bones
  • on xray: Codman triangles and sunburst appearance
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46
Q

This tumor of the bone affects the epiphyses of long bones and usually occurs in 10-20 y.o

A

Chondroblastoma

- chicken wire of mineralization is seen

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47
Q

Patient presents with polyostotic fibrous dysplasia and endocrinopathies. On P.E cafe au lait spots are seen. this disease commonly presents as..

A

Precocious puberty

  • disease is McCune-Albright syndrome
  • chinese character trabeculae
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48
Q

Onion skin appearance on radiographs

A

Ewing sarcoma

  • mutation in EWS gene on ch 22
  • affects diaphysis of long bones
  • micro char: homer wright rosettes
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49
Q

Most common form of skeletal malignancy

A

Metastatic disease

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50
Q

Radiographic hallmarks in rheumatoid arthritis

A

Joint effusions and juxta-articular osteopenia with erosions

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51
Q

Radiographic deformity seen in psoriatic arthritis

A

Pencil in cup deformity (erosive joint disease)

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52
Q

This type of brain herniation may lead to compression of branches of the anterior cerebral artery

A

Subfalcine (Cingulate) herniation

- cingulate gyrus herniates under falx cerebri

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53
Q

Mechanism of injury in epidural hematoma

A

Fracture of temporoparietal bone (pterion) leading to severance of the middle meningeal artery

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54
Q

Patient came was brought into the ER with fluctuating levels of consciousness. History of trauma reported. What is your expected finding on CT scan?

A

A crescent shaped lesion

  • patient most likely has subdural hematoma caused by tearing of bridging veins
  • usually have delayed presentation with fluctuating levels of consciousness
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55
Q

Most common cause of intraparenchymal hemorrhage

A

Hypertension

- development of minute aneurysms in basal ganglia : Charcot-Bouchard microaneurysms

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56
Q

Location of predilection of herpes encephalitis

A

Temporal lobes

  • acute hemorrhagic, necrotizing enceph
  • with cowdry type A intranuclear inclusions
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57
Q

Most common area for CMV encephalitis

A

Paraventricular subependymal regions

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58
Q

Sites usually devoid of inflammation in rabies encephalitis

A

Pyramidal neurons of the hippocampus

Purkinje cells of cerebellum

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59
Q

Most frequent presentation of multiple sclerosis

A

Unilateral visual impairment

- due to optic neuritis or retrobulbar neuritis

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60
Q

Most common cause of dementia

A

Alzheimers disease

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61
Q

Genetic alteration in Huntington’s disease

A

CAG trinucleotide repeats

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62
Q

What part of the brain is affected in Huntington’s disease?

A

Atrophy of caudate nucleus

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63
Q

Wernicke encephalopathy versus Korsakoff syndrome

A

Both are thiamine (vit B1) deficiencies, wernicke’s is reversible and involves the mamillary bodies while korsakoff syndrome is irreversible and involves the dorsomedial nucleus of the thalamus

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64
Q

Presence of Homer wright rosettes

A

Medulloblastoma

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65
Q

Most common benign brain tumor in adults

A

Meningioma

  • usually parasaggital
  • psammoma bodies also seen
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66
Q

Most common brain malignancy

A

Brain metastasis

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67
Q

Bilateral schwannoma association

A

Neurofibromatosis type 2

*Neurofibromatosis type 1 is associated with plexiform neurofibromas (shredded carrot appearance)

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68
Q

Most common cause of hyperpituitarism

A

Adenoma in anterior pituitary

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69
Q

Most frequent type of hyperfunctioning pituitary adenoma

A

Prolactinoma

- tend to undergo dystrophic calcification-> psammoma bodies or pituitary stones

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70
Q

Sudden hemorrhage into the pituitary gland clinically presenting with a triad of headache, diplopia, and hypopituarism

A

Pituitary apoplexy

- neurosurg emergency

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71
Q

Most common cause of syndrome of inappropriate ADH secretion

A

Small cell carcinoma of the lung

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72
Q

Most common cause of hypopituitarism in chuldren

A

Craniopharyngioma

  • from rathke’s pouch remnants
  • adamantinomatous type most often in children
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73
Q

Hypothyroidism developing in older child or adult

A

Myxedema (Gull disease)

- fatique, apathy, mental sluggishness, non pitting edema

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74
Q

Implicated auto antibodies in Hashimoto thyroiditis

A

Anti-thyroglobulin and anti TPO

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75
Q

Most common cause of painful thyroid gland

A

Subacute thyroiditis

- triggered by viral infection (Coxsackie)

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76
Q

Complication wherein an autonomous nodule develops within a long standing goiter and produces hyperthyroidism

A

Plummer syndrome

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77
Q

Most common primary thyroid cancer in adults and children

A

Papillary thyroid carcinoma

- associated with radiation exposure

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78
Q

Most diagnostic finding in papillary thyroid carcinoma

A

Orphan annie nuclei

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79
Q

True or False

Follicular thyroid carcinoma has frequent lymphatic invasion

A

False
Papillary thyroid carcinoma has frequent lymphatic invasion, follicular undergoes hematogenous spread and usually metastasizes to bone

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80
Q

Characteristic feature seen in neuroendocrine neoplasm derived from parafollicular/C cells

A

Acellular amyloid deposits

- seen in medullary thyroid carcinoma

81
Q

Most common cause of secondary hyperparathyroidism

A

Renal failure

82
Q

Complication in type 2 DM

A

Hyperosmolar hyperglycemic state

*in Type 1 DM: DKA

83
Q

Most common cause of death in diabetics

A

Myocardial infarction

84
Q

Most common pancreatic endocrine neoplasm

A

Insulinoma

- 80% have MEN1

85
Q

Whipple triad in insulinoma

A

Symptoms of hypoglycemia
Low plasma glucose at time of symptoms
Symptom relief when glucose is raised to normal

86
Q

Most common manifestation of primary hyperaldosteronism

A

Hypertension

*remember aldosterone acts to reabsorb Na :)

87
Q

Most common enzyme deficiency in congenital adrenal hyperplasia

A

21-hydroxylase deficiency

- presents as ambiguous genitalia in females, precocious puberty in males, and hypotension

88
Q

Pathogenesis of cystic fibrosis

A

Deletion of 3 nucleotides coding for phenylalanine aa508

89
Q

Definitive diagnosis of Barrett esophagus

A

Demonstration of intestinal goblet cells

90
Q

Most useful diagnostic marker in GIST

A

C-Kit

*GIST is the most common mesenchymal tumor of the abdomen

91
Q

Mechanism of diarrhea in Whipple’s disease

A

Malabsorptive diarrhea due to impaired lymphatic transport

*whipples disease clinical triad: diarrea, malabsorption, weight loss

92
Q

Earliest Chrohn’s disease lesion

A

Aphthous ulcer

93
Q

Juvenile polyps are mostly located in the ____________

A

Rectum

- mostly present as rectal bleeding

94
Q

Clinical triad in hepatopulmonary syndrome

A

Chronic liver disease
Hypoxemia
Intra pulmonary vascular dilations (mediated by NO)

*dec arterial oxygen sat (orthodeoxia) and increased dyspnea from supine to upright also seen (platypneg)

95
Q

Clinical triad in hemochromatosis

A

Hepatomegaly, DM, bronze skin pigmentation

96
Q

Strongest environmental influence in pancreatic adenocarcinoma

A

Cigarette smoking

*60% are found in the head of the pancreas– painLESS obstructive jaundice

97
Q

Extrinsic compression of the common hepatic duct that can be mistaken for pancreatic CA

A

Mirizzi syndrome

98
Q

Most frequent pre-existing histologic lesion in aortic dissection

A

Cystic medial degeneration/necrosis

99
Q

Earliest manifestation of hypertensive heart disease

A

Increase in the transverse diameter of myocytes

100
Q

54 yr old female came in due to unilateral temporal headache, with blindness on the ipsilateral side. She also complained of muscle and joint pains, upon lab exam serum CK was normal. What are the most common arteries involved?

A

Temporal and ophthalmic artery

  • Temporal (giant cell) arteritis - occurs in those >50, presents with polymyalgia rheumatica
  • morphology: nodular intimal thickening, multi nucleate giant cells
101
Q

Most common acquired heart disease in children

A

Kawasaki disease

102
Q

Indications for giving Aspirin in children

A

Juvenile RA
Kawasaki disease
RF

*JK Rowling

103
Q

Most common benign tumor of the liver and spleen

A

Cavernous hemangioma

104
Q

Gross changes in M.I

A

Mottling in 4 hrs
Bright yellow appearance in 1 wk
Red granulation tissue 2 wks
Gray white scar 2 months

105
Q

Irrevrsible cell injury in M.I

A

20-40 minutes

106
Q

Coagulation necrosis in M.I

A

4-12 hrs

*presence of wavy fibers and myoctolysis at periphery

107
Q

At what day post M.I is the heart most prone to rupture?

A

3rd day (heart is softest)

108
Q

Macrophages seen in M.I

A

Days 3-7

109
Q

Granulation tissue most prominent in M.I

A

1-2 wks

110
Q

Electron microscopy finding in post strep glomerulonephritis

A

Subepithelial humps

111
Q

Electron microscopy finding in post strep glomerulonephritis

A

Subepithelial humps

112
Q

The first manifestation of almost all forms of injury to cells due to influx of ions and failure of energy dependent ion pumps

A

Cellular swelling

113
Q

Type of reversible injury characterized by appearance of lipid vacuoles in the cytoplasm, often seen in cells participating in fat,etabolism(liver, heart)

A

Fatty change (steatosis)

114
Q

Irreversible condensation of chromatin in the nucleus of a cell undergoing necrosis or apoptosis; nuclear shrinkage with increased basophilia

A

Pyknosis

115
Q

Destructive fragmentation of the nucleus of a dying cell

A

Karyorrhexis

116
Q

Complete dissolution of the chromatin of a dying cell

A

Karyolysis

117
Q

Pathway of apoptosis triggered by loss of survival signals, DNA damage, and accumulation of misfolded proteins; inhibited by anti apoptotic members of the Bcl family

A

Mitochondria I/Intrinsic pway

118
Q

Initiator caspase for intrinsic pathway of apoptosis

A

Caspase 9

119
Q

Pathway of apoptosis responsible for elimination of self reactive lymphocytes and damageby cytotoxicT lympo, initiated by TNF receptors

A

Death receptor/Extrinsic pathway

120
Q

Initiator caspases for extrinsic pathway of apoptosis

A

Caspases 8,10

121
Q

Executioner caspases

A

Caspase 3,6

122
Q

Regulated cell death that results in necrosis (morphologically), caspase independent, activated R1P1 and R1P3 complexes leading to increased ROS and decreased ATP prodn in mitochondria

A

Necroptosis

123
Q

Type of apoptosis often seen in microbe infected cells; caspase I releases IL-1 and with caspase 11 causes injury

A

Pyroptosis

124
Q

Marker for autophagy, involved in formation of autophagosome

A

LC3

*autophagy: sequestration of cellular organellesinto cytoplasmic autophagic vacuoles; survival mech under stress conditions

125
Q

Effect pf caloric restriction on longevity

A

Increased due to decreased IGF 1 signaling

126
Q

Proteins produced in response to food deprivation with actions that lead to prolonged longevity (anti apoptotic, anti ROS)

A

Sirtuins

127
Q

General steps of an inflammatory response

A
Recruitment of leukocytes
Regulation of response
Recognition of injurious agent
Removal of agent
Resolution
128
Q

Morphologic hallmarks of acute inflammation

A

Vasodilation and accumulation of WBCs and fluid in extravascular tissue

129
Q

Most notable mediator that produces vasodilation

A

Histamine

130
Q

Most common mechanism of increased microvascular permeability

A

Endothelial cell contraction

131
Q

Initial vascular response to injury

A

Vasoconstriction

132
Q

Process of leukocyte accumulation at the periphery of blood vessels

A

Margination

133
Q

Molecules in endothelium and wbc responsible for rolling

A

P and E selectins on endothelium with Sialyl Lewis X on wbc

glycam 1, CD34 on endothelium with L selectin on leukocyte

134
Q

Molecules responsible for adhesion

A

ICAM 1 on endothelium with CD 11/18 integrins in wbc

VCAM1 on endothelium with VLA 4 on wbc

135
Q

Molecules in the endothelium responsible for transmigration (diapedesis)

A

PECAM 1/CD 31

136
Q

What are the different chemoattractants?

A

Exogenous: bacterial products (N-formylmethionine, lipids)

Endogenous: IL 8, C5a, LTB4

137
Q

Vasoactive amine that results in vasoconstriction; sources include platelets and neuroendocrine cells

A

Serotonin

138
Q

Most abundant complement

A

C3

139
Q

Anaphylatoxins

A

C3a, C4a, C5a

140
Q

Anti inflammatory cytokines for regulation of the inflammatory response

A

Lipoxin, TGF beta, IL 10

141
Q

Two kinds of cells seen in granulomas

A

Epithelioid cells (activated macrophages with pink, granular cytoplasm resembling epithelial cell) and giant cells

142
Q

Tissue whose cells can readily regenerate as long as stem cells are preserved (bone marrow, vaginal epith)

A

Labile tissues

143
Q

Cells are quiescent and have minimal replicative activity nirmally; capable of proliferating in response to injury or loss of tissue mass (smooth ms, endothelium, liver parenchyma)

A

Stable tissues

144
Q

Cells of these tissues considered to be terminally differentiated and non proliferative in post natal life (neurons, cardiac muscle)

A

Permanent tissue

145
Q

Type of repair in labile and stable tissues; influenced by growth factors

A

Regeneration

146
Q

Type of repair in chronic, severe inflammation and in permanent tissues

A

Connective tissue deposition

147
Q

Steps in healing by connective tissue deposition

A

Angiogenesis
Formation of granulation tissue
Remodeling of scar

148
Q

Most notable growth factor in angiogenesis

A

VEGF

149
Q

Most important cytokine for synthesis and deposition of connective tissue

A

TGF- beta

150
Q

Pink, soft, granular tissue seen beneath the scab of a skin wound;HALLMARK of tissue healing, appears by 3-5 days

A

Granulation tissue

151
Q

Histologic findings of granulation tissue

A

Proliferation of fibroblasts and new thin walled delicate capillaries in loose ECM, often with admixed inflammatory cells mainly macrophages

152
Q

General morphologic appearance of edema

A

Clearing and separation of ECM, and subtle cell swelling

153
Q

Characterized by alveolar capillaries engorged with blood with associated alveolar septal edema or focal minute intra alveolar hemorrhage

A

Acute pulmonary congestion

154
Q

Pulmonary septa are thickened and fibrotic eith hemosiderin laden macrophages in alveolar spaces

A

Chronic pulmonary congestion

155
Q

The central vein and sinusoids of the liver are distended with blood, with central hepatocyte degeneration; periportal hepatocytes are better oxygenated

A

Afute hepatic congestion

156
Q

Central regions of the hepatic lobules are grossly red brown, sltly depressed and are accentuated against the surrounding zones of uncongested tan, sometimes fatty liver. (+) centrilobular necrosis with hepatocyte drop out, hge, and hemosiderin laden macrophages

A

Chronic hepatic congestion

157
Q

Pathologic form of hemostasis

A

Thrombosis

158
Q

Major contributor to the development of arterial thrombi

A

Turbulence or endothelial injury

159
Q

Major contributor to development of venous thrombi

A

Stasis

160
Q

Laminations composed of pale platelet and fibrin deposits alternating with darker red cell rich layers; Signifies formation of thrombus in flowing blood

Present in antemortem thrombus

A

Lines of zahn

161
Q

Most common site of arterial thrombosis

A

Coronary > cerebral > femoral

162
Q

Most common site of venous thrombosis

A

Superficial or deep veins of the leg

*thrombi in superficial leg veins rarely embolize
Deep leg thrombi are most common source of venous emboli

163
Q

Most common and most dreaded sequelae of deep venous thrombosis

A

Pulmonary embolism

164
Q

Embolus occluding a bifurcation in the pulmonary tree; associated with sudden death due to acute right sided heart failure

A

Saddle embolus

165
Q

A venous embolus which entered the systemic circulation through an interartedial or interventricular defect

A

Paradoxical embolus

166
Q

Microscopic fat globules found in circulation after fractures of long bones or after soft tissue trauma; can lead to pulmo insufficiency, neuro symptoms, anemia, and thrombocytopenia

A

Fat embolism

167
Q

Gas bubbles within the circulation obstructing vascular flow and causes distal ischemic injury (decompression sickness- bends, chokes)

A

Air embolism

168
Q

Most common lysosomal storage disorder; most common form is chronic. Type II (non neuropathic) is most severe

Microscopically: distended phagocytic cells in liver, spleen, BM, LN, tonsils, thymus and peyer patches, with fibrillary cytoplasm “crumpled tissue paper appearance”

A

Gaucher disease

169
Q

Prominent occiput, mental retardation, micrognathia, low set ears, short neck, overlapping fingers, CHDs, renal malformation, limited hip abduction, rocker bottom feet

A

Trisomy 18 (Edward syndrome)

170
Q

Microcephaly, microphthalmia, mental retardation, polydactyly, cardiac and renal defects, umbilical hernias, rocker bottom feet

A

Trisomy 13 (Patau syndrome)

171
Q

Chromosome 22q11.2 deletion syndrome

A

DiGeorge syndrome (CATCH22) and velocardiofacial syndrome

172
Q

Ch 22q11.2 deletion syndrome are at high risk for these disorders:

A

Schizophrenia and bipolar disorder

173
Q

2 or more X chr, 1 or more Y chromosomes. Important cause of reduced spermatogenesis and male infertility.
Clinical feats: eunuchoid body, testicular atrophy, micropenis, absence of secondary sex characteristics etc

A

Klinefelter syndrome (most common 47XXY)

174
Q

Complete or partial monosomy of X chromosome. Female hypogonadism in phenotypic females. Single most impt cause of primary amenorrhea

Clinical feats: ovarian streaks, absence of secondary sex characteristics, short, cystic hygroma of head and neck, preductal CoA

A

Turner syndrome

175
Q

Property of trinucleotide repeat disorders where disease worsens with each successive generation

A

Anticipation

176
Q

Most common cause of MR after downs syndrome. CGG expansion in FMR1 gene in X chromosome. Most distinctive feature is macro-orchidism

A

Fragile X syndrome

177
Q

Autosomal dominant neurodegenerative disorder. CAG expansion on HTT gene on ch4p16.3. Relentlessly progressive and uniformly fatal

A

Huntington disease

178
Q

Diseases featuring maternal inheritance, usually a fundamental defect is abnormality in the electron transport chain

A

Mitochondrial disorders

Ex. MELAS, leber hereditary optic neuropathy

179
Q

Deletion in paternally derived ch 15q11.2q13. Clinical feats include MR, hypotonia, profound hyperphagia, obesity, small hands and feet, hypogonadism

A

Prader-Willi syndrome

180
Q

Deletion in maternal ch15q12. Clinical feats include MR, ataxic gait, seizure, and inappropriate laughter “happy puppet”

A

Angelman syndrome

181
Q

Autoantibodies associated with congenital heart block in neonatal lupus

A

Anti-Ro, anti-La

182
Q

Histopath finding in SLE with skin involvement

A

LM: liquefactive degeneration of basal layer, edema at DEJ, mononuclear infiltrates around bld vessels and skin appendages

IF: deposition of Ig and complement in DEJ

183
Q

Clinicopathologic entity with a triad of dry eyes, dry mouth and other manifestations such as arthritis

A

Sjogren syndrome

184
Q

Triad of chronic inflammation, widespread damage to small blood vessels, and progressive interstitial and perivascular fibrosis in the skin and multiple organs

A

Systemic sclerosis

185
Q

Most common autoantibody associated with diffuse cutaneous systemic sclerosis

A

Anti-DNA topoisomerase I (anti-Scl 70)

186
Q

Common autoantibody associated with limited scleroderma

A

Anti-centromere antibodies

187
Q

Most common antibody associated with scleroderma renal crisis

A

Anti-RNA pol III

188
Q

Most common extracutaneous manifestation of systemic sclerosis

A

Raynauds phenomena

189
Q

Most common cause of death in patients with systemic sclerosis

A

Interstitial lung disease and pulmonary arterial hypertension

190
Q

Complication of hematopoietic stem cell transplantation where immunologically competent cells attack the tissues of immunocompromised host

A

Graft vs host disease

191
Q

Primary immune deficiency characterized by absent or markedly decreased number of B cells in circulation. Depressed serum levels of all immunoglobulin

A

X-linked agammaglobulinemia (Bruton disease)

192
Q

Cardinal features of thymic hypoplasia

A
CATCH22
Cardiac defect (TOF)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
193
Q

Disorder of lymphocyte activation. Absence of CD40L (CD145) resulting in lack of class switching. Increase in IgM and decrease in IgA, IgG, and IgE

A

Hyper IgM syndrome

194
Q

X linked recessive disease characterized by thrombocytopenia, eczema, and marked vulnerability to recurrent infection resulting in early death

A

Wiskott-Aldrich syndrome

195
Q

Hereditary angioedema

A

C1 inhibitor deficiency

196
Q

Deficiency of this causes increased susceptibility to pyogenic bact inf

A

C3

197
Q

Deficiency increases susceptibility to immune complex mediated disease

A

C1q, C2, and C4

198
Q

Deficiency increases susceptibility to Neisseria infections

A

C5-C9