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Physio/Path Flashcards

1
Q

MEN 2B

A

Medullary carcinoma of thyroid, pheochromocytoma, oral and intestinal mucosal neuromas. ret gene.

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2
Q

MEN 2A

A

Medullary carcinoma of thyroid, pheochromocytoma, parathyroid. ret gene. Medical Physicians Are Parental But Neurotic

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3
Q

MEN1

A

AD; 3 P’s - parathyroid, pituitary, pancreas. MEN1 gene

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4
Q

Superior Vena Cava syndrome presentation?

A

Impaired venous return = facial edema and plethora, venous distension distal to obstruction; Lung cancer is most common etiology

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5
Q

Trochlear nerve palsy presents as

A

Vertical diplopia, most commonly seen when looking towards nose

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6
Q

Histology of hyperplastic arteriosclerosis

A

Onion-like concentric thickening of walls b/c of laminated SMCs and reduplicated BM’s

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7
Q

Pathophysio of Paget’s disease of bone?

A

Excessive osteoclastic bone resorption; unknown etio (?paramyxovirus). High Alk phos. Bone pain. Older patient. Inc. risk for osteosarcoma. Characterized by episodes of bone resorption then bone accumulation. (Osteolytic phase, mixed phase, osteosclerotic phase). “Mosaic lines.” “Woven bone.”

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8
Q

Osteoclastic differentiation?

A

From hematopoietic progenitor cells; RANK-L and M-CSF

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9
Q

Etio of subacute cerebellar degen?

A

Paraneoplastic often w/ SCLC; AB-mediated! (Anti-Yo, P/Q, Hu)

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10
Q

Blotchy red muscle fibers? (on Gomori trichome stain)

A

Mitochondrial myopathies - abnl mt accumulate under sarcolemma

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11
Q

Cystic fibrosis - details of CFTR mutation

A

Chromosome 7; DelF508; ATP-binding cassette transmembrane ione transporter that uses ATP to pump Cl- against gradient out; Hydrates mucosal surfaces, secretion from exocrine pancreas, sweat (hypotonic)

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12
Q

Axonal reaction

A

Changes in neuronal body after axon severing. Cellular edema, peripheral nucleus, Nissl substance dispersed (central chromatolysis); starts 24-48 h after

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13
Q

Classic triad of reactive arthritis?

A

Non-GC urethritis, conjuctivitis, and arthritis. HLA-B27 associated. seronegative spondylarthropathies causing sacroiliitis ~20% time.

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14
Q

Most common autoab’s in SLE?

A

ANA (sensitive). Anti-dsDNA (specific). Anti-Smith (=anti-snRNPs, specific).

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15
Q

Dermatitis herpetiformis

A

Erythematous, puritic papules, vesicles. B/l, symmetric on extensor surface. Associated with CELIAC disease. Formation of IgA and IgG ab against gliadin, cross-react with reticulin. Immuno will reveal IgA deposits in tips of dermal papillae.

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16
Q

Pseudogout

A

Calcium pyrophosphate deposition disease. RHOMBOID weak Positive birefringence (blue when parallel and yellow when perpendicular). WBC w/ neutrophilic.

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17
Q

Hematogeneous osteomyelitis affects what area of bone?

A

Metaphysis of long bones (children) b/c of slow-flowing vasculature. tx = debridement + abx

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18
Q

Carcinogens like arsenic, thorotrast, and PVC can lead to what cancer?

A

Hepatic angiosarcoma. Express CD31 (epithelial)

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19
Q

MM

A

Easy fatigability, constipation, back pain, azotemia. Large eosinophilic casts composed of Bence-Jones proteins.

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20
Q

Hypercalcemia associated with cancer usually due to?

A

Overproduction of parathyroid-hormone-related protein (PTHrP). It’s also an inhibitor of phosphorus reabsorption

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21
Q

Potter sequence

A

Final pathway from oligohydramnios. True Potter syndrome from b/l renal aplasia. Leads to clubfeet, pulmonary hypoplasia, facies.

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22
Q

Primary hyperparathyroidism

A

Adenoma in 80-85%, hyperplasia in 10-15%. Inc. renal absorption, inc. GI absorption b/c of 1,25-D, and increased bone resorption via osteoclasts. Bone loss, renal stones, ulcers, psych. Subperiosteal erosions.

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23
Q

Causes of ED

A

Psychogenic stressors, anxiety/depression, SSRIs, sympathetic blockers, vascular/neuro impairment, GU trauma

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24
Q

Net filtration pressure =

A

Hydrostatic pressure gradient - oncotic pressure gradient

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25
Q

Coagulation necrosis?

A

Irreversible ischemic injury EXCEPT brain. Tissue arch preserved. But anucleated cells with eosionphilic cytoplasm.

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26
Q

Wilsons Disease

A

Kayser-Fleischer ring. AR, dec. formation and secretion of ceruloplasmin (Cu can’t get to biliary system for excretion). Damages hepatocytes. Atrophy of basal ganglia. Tx = cu chelators (d-penicillamine and trientine). Neuropsych. Dx = dec. ceruloplasmin. Path - degenerated putamen.

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27
Q

Strawberry hemangiomas

A

Capillary hemangiomas are benign vascular tumors of childhood appearing early in 1st weeks, growing rapidly, then regressing by 5-8.

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28
Q

Hemochromatosis

A

HFE encodes HLA I-like molecule that affects Fe absorption. (C282Y).

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29
Q

Drug-induced lupus

A

Linked to drugs metabolized by N-acetylation in the liver (e.g. hydralazine and procainamide). Acetylator phenotypes associated with genetic disposition.

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30
Q

The major genes in pathogenesis of colon cancer?

A

APC (to polyp), RAS (to larger polyp), p53 + DCC (to malignancy)

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31
Q

Why is nephrotic syndrome a hypercoagulable state?

A

Loss of anticoagulation factors, especially anti-thrombin III

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32
Q

Buerger’s disease

A

Thromboangiitis obliterans - vasculitis of medium and small arteries (e.g. tibial and radial). Segmental! Fibrous. SMOKING.

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33
Q

Path of Temporal arteritis?

A

Granulomatous inflammation.

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34
Q

Most potent cerebral vasodilator

A

pCO2. Decreases cerebral vascular resistance -> inc. cerebral perfusion and intracranial pressure. COPD patients have hypercapnia and therefore have increased cerebral circulation

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35
Q

Dietary aflatoxin exposure associated with?

A

G:C -> T:A in codon 249 of p53 -> HCC risk. Aspergillus toxin in Asia/Africa

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36
Q

Sarcomere

A

Z to Z. Thick line = M-line. Actin in I-Band attaches at Z-line. Myosin in H-Band attaches at M-line.

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37
Q

Sensitive indicator for apoptosis?

A

DNA laddering - during karyorrhexis, endonucleases cleave internucleosomal regions -> 180bp fragments.

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38
Q

Sarcomere

A

Z to Z. Thick line = M-line. Actin in I-Band attaches at Z-line. Myosin in H-Band attaches at M-line. “H&M” “I&Z”

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39
Q

Bcl-2 f(x)?

A

Prevents cytochrome-c release by binding to and inhibiting Apaf-1, which induces caspace activation. Over-expressed bcl-2 -> tumorigenesis (e.g. follicular lymphoma)

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40
Q

Extrinsic pathway of apoptosis

A

Two pathways. Ligand receptor (FasL binding to Fas; medullary negative selection). Crosslinking of Fas to FasL leads to binding site formation for death domain-containing adapter protein FADD, which activates caspases. OR cytotoxic release of Granzyme B + perforin.

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41
Q

Fibrinoid necrosis

A

Vasculitides, malignant hypertension. Appears amorphous and pink on H&E

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42
Q

Gangrenous necrosis

A

Dry (ischemic coagulative) and wet (infection). Limbs and GI

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43
Q

Liquefactive necrosis

A

Brain, bacterial abscess. Enzymatic degradation FIRST.

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44
Q

Coagulative necrosis

A

Heart, liver, kidney (tissues supplied by end-arteries). Inc. binding of acidophilic dye. Proteins denature first, THEN enzymatic degradation. Tissue architecture preserved. Eosinophilic cells.

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45
Q

Liquefactive necrosis

A

Brain (not much stroma), bacterial abscess. Abscess, CSF-filled spaces. Enzymatic degradation FIRST.

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46
Q

Areas susceptible to hypoxia/ischemia and infarction

A

Watershed areas (brain, splenic flexure, rectum). Subendocardium (LV). Straight segment of proximal tubule and thick ascending limb. Central vein (liver). HIE affects pyramidal cells of hippocampus and purkinje of cerebellum

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47
Q

Red vs. pale infarct?

A

Red infarct occurs in tissue with MULTIPLE blood supply (lung, intestine, testicle). Reperfusion injury 2/2 free radicals. Pale infarcts occur in solid organs with single blood supply (heart, kidney, spleen)

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48
Q

Types of shock

A

Distributive (septic, neurogenic, anaphylactic) - vasodilation, IV fluid NONresponsive, decreased PCWP, decreased TPR, increased CP, inc. venous return. Hypovolemic/cardiogenic - vasoconstriction, bp restored. PCWP high in cardiogenic but LOW in hypovolemic. LOW-output failure (inc. TPR, low CO, and low venous return)

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49
Q

Chromatolysis?

A

Cell body processes following axonal injury reflective of increased protein synthesis to repair. Round cellular swelling, displacement of nucleus to periphery, dispersion of Nissl substance throughout

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50
Q

Types of shock

A

Distributive (septic, neurogenic, anaphylactic) - vasodilation, IV fluid NONresponsive, decreased PCWP, decreased TPR, increased CP, inc. venous return. Hypovolemic/cardiogenic - vasoconstriction, bp restored. PCWP high in cardiogenic b/c of incomplete emptying but LOW in hypovolemic. LOW-output failure (inc. TPR, low CO, and low venous return)

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51
Q

Where does extravasation typically occur?

A

Post-capillary venules

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52
Q

Leukocyte extravasation

A

Margination and rolling (E-selectin, P-selectin; Sialyl-Lewis). Tight-bdining (ICAM-1, VCAM-1; integrins [LFA, Mac, VLA]). Diapedesis (PECAM-1). Migration (Chemotactic products include IL-8, C5a, LTB4, kallikrein, PLT-activating factor)

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53
Q

Free radical injury

A

Initiated via radiation, metabolism of drugs, redox rxns, NO, transition metals, oxidative burst. Damage cells via lipid per oxidation, protein mod, and DNA breakage. Eliminated by enzymes (catalase, superoxide dismutase, glutathione peroxidase), decay, and antioxidants (ACE). Path - retinopathy of prematurity, bronchopulmonary dysplasia, CCl4 -> liver necrosis, acetaminophen overdose, iron overdose, reperfusion injury (superoxide)

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54
Q

Sequelae of inhalation injury?

A

Chemical tracheobronchitis, edema, and pneumonia

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55
Q

Two pathologic scar formation types

A

Hypertrophic - increased collagen synthesis, parallel arrangement, but confined to borders of wound, and don’t recur often after resection. Keloid scars are HIGH collagen synthesis with disorganized arrangement, extending beyond border and frequently recurring.

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56
Q

PDGF

A

Secreted by activated platelets and macrophages. Induces vascular remodeling, SMC migration, fibroblast growth -> collagen synthesis

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57
Q

FGF

A

Stimulates angiogenesis

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58
Q

EGF

A

Epidermal growth factor. Stimulates cell growth via tyrosine kinases.

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59
Q

FGF

A

Stimulates angiogenesis. Fibroblast growth factor is NOT for fibrosis but for angiogenesis.

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60
Q

Metalloproteinases

A

Tissue remodeling

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61
Q

Three phases of wound healing

A

Inflammatory (plt, neutrophils, macrophages - clot formation, inc. vessel permeability w/ migration. macrophage clean-up by dy 2). Proliferative (2-3 dy, fibroblasts, myofibroblasts, endothelial cells, keratinocytes, macrophages. Deposition of GRANULATION tissue and collagen, angiogenesis, epithelial cell, clot dissolution, wound contraction). Remodeling phase (1 wk, FIBROBLASTS, Type III replaced by type I to increase tensile strength, which returns to 70-80% by 3 mo).

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62
Q

Granuloma formation

A

Th1 cells secrete IFN-gamma activating macrophages. TNF-alpha from macrophages induce and maintain. Anti-TNF drugs can 2ndarily cause disseminated disease. Bartonella, Churg-Strauss, Crohn, Francisella, Fungal, Wegener, Listeria, M. leprae/tuberculosis, Treponema, Sarcoidosis, Schistosomiasis

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63
Q

Exudate vs. Transudate

A

Exudate is cellular, protein rich, sg>1.020, 2/2 lymphatic obstruction, inflammation/infection, or malignancy. Transudate is hypo cellular, protein-poor, sg<1.012, 2/2 inc. hydrostatic pressure, dec oncotic pressure, Na+ retention

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64
Q

ESR

A

Products of inflammation coat RBC -> aggregation -> falling faster

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65
Q

ESR up vs. ESR down.

A

Up - anemias, infections, inflammation, cancer, pregnancy, autoimmune. Down - Sickle cell, Polycythemia (diluting the aggregates), CHF (unk. mech)

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66
Q

Fe poisoning?

A

Mech is peroxidation of membrane lipids. Symptoms include nausea, vomiting, gastric bleeding, lethargy. Chronically causes metabolic acidosis and warring -> GI obstruction. Tx = chelation (IV deferoxamine) and dialysis

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67
Q

Amyloidosis histopath?

A

Congo red stain, which shows apple green birefringence under polarized light.

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68
Q

AL amyloidosis

A

Primary. Deposition of Ig Light chains. Plasma cell or MM disorder. Nephrotic, restrictive cardio/arrhythmia, easy bruising, hepatomegaly, neuropathy

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69
Q

AA amyloidosis

A

Secondary. Chronic conditions like RA, IBD, spondyloarthropathy, inf. Amyloid A.

70
Q

Dialysis-related amyloidosis

A

B2-microglubulin fibrils. ESRD or long-term dialysis.

71
Q

Heritable amyloidosis

A

Transthyretin (TTR or prealbumin) gene mut -> ATTR neurologic/cardiac

72
Q

Age-related (senile) systemic amyloidosis

A

Deposition of normal TTR (Transthyretin) in myocardium and other sites

73
Q

Organ-specific amyloidosis

A

Alzheimer’s is most important. 2/2 to amyloid precursor protein (APP) cleaved to amyloid-B protein. Islet amyloid polypeptide in DMT2.

74
Q

Lipofuscin

A

Yellow-brown “wear and tear” formed by oxidation/polymerization of old organellar membranes.

75
Q

Neoplastic cells invade basement membrane how?

A

Collagenases and hydrolases (metalloproteinases)

76
Q

P-glycoprotein

A

Multidrug resistance protein 1 (MDR1) expressed to pump out chemotherapeutic agents

77
Q

Metaplasia vs. dysplasia

A

Metaplasia is change of adult cell type often 2/2 irritation. While dysplasia is abnormal growth with loss of cellular orientation, shape, and size

78
Q

Anaplasia vs. neoplasia

A

anaplasia is loss of STRUCTURE (differentiation and function). Neoplasia is clonal proliferation that is uncontrolled and excessive.

79
Q

Desmoplasia

A

Fibrous tissue formation in response to neoplasm. Irreversible.

80
Q

Carcinoma vs. sarcoma

A

Epithelial vs. mesechyma. Carcinomas tend to spread lymphaticlly (but not RCC, HCC, follicular carcinoma of thyroid, and choriocarcinoma). Sarcomas tend to spread hametogenously

81
Q

Muscle tumor nomenclature

A

Leiomyoma (smooth) and rhabdomyoma (striated) vs. leiomyosarcoma and rhabdomyosarcoma

82
Q

Cachexia mediators

A

TNF-alpha, IL-6, and IFN-gamma

83
Q

Acanthosis nigricans ~ malignancy?

A

Visceral esp. stomach

84
Q

Cushing syndrome ~ malignancy?

A

SCLC

85
Q

Down syndrome ~ malignancy?

A

ALL and AML

86
Q

Paget disease of bone ~ malignancy?

A

Secondary osteosarcoma and fibrosarcoma

87
Q

Polycythemia ~ malignancy?

A

RCC, HCC

88
Q

SIADH ~ malignancy?

A

SCLC

89
Q

Tuberous sclerosis ~ malignancy?

A

Giant cell astrocytoma, renal angiomyolupoma, cardiac rhabdomyoma

90
Q

myc genes associated with what tumors?

A

c-myc w/ Burkitt. L-myc with Lung. N-myc with neuroblastoma. Transcription factor. Myc? CBiscuit. L for lung. N for neuroblastoma.

91
Q

Pancreatic cancer genes?

A

CPD4/SMAD4

92
Q

Tumor marker alpha-fetoprotein for?

A

HCC, hepatoblastoma, yolk sac tumor, testicular ca, mixed germ cell tumor

93
Q

B-hCG marker for?

A

Hydatiform moles, Choriocarcinomas, testicular

94
Q

CEA

A

Non-specific but used for breast, colon, and pancreatic cancer.

95
Q

S100 marker

A

Neural crest (melanoma, neural, schwannomas, Langerhans cell histiocytosis)

96
Q

TRAP marker?

A

Tartrate-Resistant Acid Phosphate for Hairy cell leukemia

97
Q

Calcitonin is tumor marker for?

A

Medullary thyroid carcinoma

98
Q

EBV associated with what malignancies?

A

Burkitt, Hodgkin, nasopharyngeal carcinoma, and CNS lymphoma in immunocompromised pts

99
Q

Liver carcinogens?

A

Alfatoxins (Aspergillus, HCC), Arsenic (Angiosarcoma), CarbonCl4 (centrilobular necrosis/fatty change), EtOH (HCC), Vinyl chloride (angiosarcoma)

100
Q

Lung carcinogens?

A

Arsenic, asbestosis (Bronchogenic carcinoma > mesothelioma), cigarette (squamous cell and small cell), radon

101
Q

Nitrosamines?

A

Smoked foods -> stomach -> gastric ca risk

102
Q

Small cell lung carcinoma paraneoplastic syndromes?

A

Cushing syndrome (ACTH), SIADH (ADH), Lambert-Eaton (presynaptic Ca2+ Ab)

103
Q

Hypercalcemia 2/2 to paraneoplastic syndrome?

A

Calcitriol (Hodgkin lymphoma) or PTHrP (squamous cell lung ca, RCC, breast cancer)

104
Q

Polcythemia 2/2 to paraneoplastic syndrome?

A

EPO. RCC, thymoma, hemangioblastoma, HCC, leiomyoma, pheochromocytoma

105
Q

Psammomma bodies

A

Laminated, concentric, calcified spherules. FOUR things. PSaMM - Papillary carcinoma of thyroid, serous papillary cysadenocarcinoma of ovary, meningioma, malignant mesothelioma

106
Q

Brain metastases

A

Lung > breast > GU > osteosarcoma > melanoma > GI. 50% of brain tumors are metastases. Tend to be found at gray/white matter junction and well-circumscribed.

107
Q

Liver metastases

A

Colon&raquo_space; stomach > pancreas.

108
Q

Bone metastases

A

Prostate and breast > lung > thyroid. Prediliction for axial. Prostate = blastic. Breast = lytic and blastic.

109
Q

Melanoma genes

A

BRAF - often V600E mutation (valine -> glutamate)

110
Q

SLE endocarditis?

A

Libman-Sacks endocarditis occurring in up to 25% of SLE patients causing small cardiac vegetations on either side of valve -> fibrotic thickening

111
Q

HBV path?

A

Cytoplasm is filled with spheres and tubules of HBsAg -> finely granular, eosinophilc appearance; “ground glass.”

112
Q

Acute neuronal injury vs. axonal reaction

A

Transiet severe insult (red neuron) -> shrinkage of body, pyknosis, loss of Nissl, eosinophilic.

113
Q

Psoriasis biopsy

A

Hyperkeratosis, aconthosis, rete ridge elongation, mitotic activity above basal cell, and reduced/absence stratum granulosom.

114
Q

Glomangioma

A

Very tender, small (mm) red-blue lesion under nail bed, originating from SMC that control thermoregulatory f(x) of dermal glomus bodies (neurovasc organs, which shunts blood away from finger-tips with cold).

115
Q

Churg-Strauss

A

Idiopathic systemic vasculitis associated with adult-onset asthma, eosinophilia, pANCA, neuropathy, paranasal sinus abnormalities

116
Q

Proto-oncogenes?

A

Ras, N-myc, ERB-B1/2, TGF-alpha, sis (astrocytoma, osteosarcoma), abl (CML, ALL)

117
Q

Anti-oncogenes?

A

BRCA-1/2, NF-1, APC/beta-catenin, DCC, p53, Rb, WT-1

118
Q

Osler-Weber-Rendu syndrome

A

Hereditary hemorrhagic telangectasia. AD inheritance of telangiectasis of skin and mucous membranes. Ruptures causing epistaxis, GI bleeding, and hematuria.

119
Q

Malignant hyperthermia

A

Hyperthermia and and muscle rigidity. Can occur after administration of inhaled anesthetics and/or succinylcholine to genetically susceptible. Tx = dantrolene which blocks ryanodine receptors to prevent Ca+ release into cytoplasm of skeletal muscle fibers.

120
Q

Fulminant ARF?

A

Only 1% of patients. Death from severe myocarditis.

121
Q

Melanoma embryological origin?

A

Neural crest cell

122
Q

Where are the stratified squamous epithelium from esophagus up?

A

Oropharynx, laryngopharynx, anterior epiglottis, upper half of posterior epiglottis, TRUE vocal cords. Rest is pseudo stratified, columnar, mucus-secreting epithelium

123
Q

T-tubules?

A

Invaginanations of the muscle cell membrane. One T-tubule contacts two terminal cisterns forming triad at junction of A-band and I-band. RAPID depolarization of sarcolemma (dihydropyridine voltage-gated Ca+) to SR (ryanodine)

124
Q

Li-Fraumeni syndrome

A

p53 AD. Tumors of breast, brain, and adrenal cortex are common.

125
Q

RAS

A

GTP-binding protein. Cholangiocarcinoma, pancreatic adenocarcinoma. Proto-oncogene (1-hit gain of function)

126
Q

ERBB1/EGFR

A

RTK. Lung adenocarcinoma. proto-oncogene

127
Q

ERBB2=HER2

A

RTK. Breast cancer. Proto-oncogene

128
Q

BRAF

A

RAS signal transduction. Hairy cell leukemia, melanoma. Proto-oncogene.

129
Q

BRCA1&2

A

DNA repair genes. Breast and ovarian cancer. Tumor suppressor genes

130
Q

APC/Beta-cetenin

A

WNT signaling pathway. Colon, gastric, pancreatic ca + FAP. Tumor suppressor

131
Q

VHL

A

Ubiqitin ligase component. RCC, VHL. Tumor suppressor gene.

132
Q

WT1

A

Urgenital differentiation. Wilms tumor. Tumor suppressor gene.

133
Q

Pathogenesis of acne

A

Follicular epidermal hyperproliferation, excessive sebum production, inflammation, Propionibacterim acnes. Androgens promote both follicular epidermal hyperpoliferation AND excessive sebum production. So do EGFR inhibitor and lithium.

134
Q

Cross-bridge cycle?

A

ATP binds for DETACHMENT of myosin cross bridge. Hydrolysis to ADP +Pi. Cross-bridge formation IF tropomyosin is OUT of the way (requires Ca+ binding to troponin to remove). Then power stroke.

135
Q

Morning stiffness

A

RA morning stiffness improves w/ use and lasts >30 minutes. OA morning stiffness <30 min.

136
Q

Triad for fat embolism

A

Acute onset neuro, hypoxemia, and petechial rash

137
Q

MDR1 gene?

A

Multi-drug resistance gene. P-glycoprotein - ATP-dependent efflux pump. Tumor cell expression leads to decreased effectiveness of chemo (esp. anthracyclines).

138
Q

AD diseases

A

Tuberous sclerosis, Marfan syndrome, Neurofibromatosis, Huntington’s disease, Retinoblastoma, Waardenburg syndrome, Myotonic dystrophy, Familial hypercholestrolemia (LDL receptor defect Type IIa), Adult polycystic kidney disease, von Hippel Lindau, Familial adenomatous polyposis and Peutz Jeghers Syndrome, Hereditory spherocytosis, Achondroplasia, Ehlor’s Danlos (vascular type), Acute intermittent porphyria, HOCM, Von Willebrand Disease, Polydactyly, Osteogenesis Imperfecta (Except Type VII), Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome), Osteopetrosis Type II (Adult type), Hypokalemic Periodic Paralysis

139
Q

X-linked recessive diseases

A

Lesch-Nyhan Syndrome, Duchenne Muscular Dystrophy
Hunter’s Disease, Menkes Disease, G6PD Deficiency, Hemophilia A and B, Fabry’s Disease, Wiskott-Aldrich Syndrome, Bruton’s Aggamaglobulinemia, Color Blindness
Complete Androgen Insensitivity, Congenital Aqueductal stenosis (hydrocephalus), Inherited Nephrogenic Diabetes Insipidus

140
Q

Caudal regression syndrome

A

Agenesis of sacrum +/- lumbar spine -> flaccid paralysis of legs, dorsiflexed feet contractors, and urinary incontinence. Related to poorly controlled maternal diabetes.

141
Q

Main function of brown fat?

A

Heat production. Found in neonates + hibernating animals (b/c susceptible to hypothermia). More mitochondria where e- transport and phosphorylation are uncoupled 2/2 thermogenin.

142
Q

Sarcoidosis hypercalcemia?

A

Due to activated MACROPHAGES -> extra-renal formation of 1,25-OH Vitamin D. Suppresses PTH.

143
Q

Henoch-Schonlein Pupura

A

Usu. boys 2-10 yrs following viral or strep URI. IgA-mediated vasculitis. GI - hematemesis and bloody diarrhea. Kidney - IgA nephropathy (mesangial proliferation and crescent formation). Skin - palpable purport. Joints - migratory arthralgias and arthritis.

144
Q

Cystic medial degeneration

A

Myxomatous changes in media of large arteries characterized by fragmentation of elastic tissue (“basket weave” instead of parallel lines”). Often seen in Marfan syndrome patients.

145
Q

Major indications for long-term uric acid therapy for gout?

A

Macroscopic tophaceous deposits, >3 eps/yr, uric acid stones, or gross elevation of serum uric acid. Allopurinol and uricosuric drugs (probenecid & sulfinpyrazone, which should be avoided if nephrolithiasis and only work if good renal flow). Febuxostat is new xanthine oxidase inhibitor.

146
Q

Pemphigus vulgaris vs. Bullous pemphigoid

A

Autoab’s against desmosomes vs. hemidesmosome. “Desmond is vulgar.” Ruptured bullae vs. unrupted bullae.

147
Q

Autoabs against cutaneous basement membrane proteins?

A

Epidermolysis bullosa acquisita and cicatrical pemphigoid

148
Q

Pityriasis rosea

A

Hearld patch (plaque w/ central clearing) followed by ovoid maculpapular rash along skin tension lines (Christmas tree pattern). Unclear etio but perhaps viral?

149
Q

Cadherins

A

Transmembrane proteins for adherens junctions and desmosomes. Connect to keratin and actin.

150
Q

Fibronectin

A

An ECM protein that binds to integrins to help cells bind to the ECM (collagen IV?)

151
Q

Nummular eczema

A

Coin-patch lesions often in setting of xerosis. Harsh soaps.

152
Q

Tyrosine receptor kinases

A

Ligand binds. Dimerization of receptor -> autophosphorylation of tyrosine residues -> downstream effects

153
Q

Hemochromatosis

A

Often doesn’t present till 40’s because it takes decades of Fe deposition into the dermis for effects to present. AR.

154
Q

Umbilical vein catheterization

A

Doesn’t complete close until 1 week. Go from umbilical vein (ligamentum teres) to ductus venosus (bypass liver to IVC; ligamentum venosum).

155
Q

Mechanisms of therapeutic radiation

A

(1) DNA ds breaks and (2) formation of free radicals

156
Q

L-type channel-RyR mechanical coupling?

A

Refers to how in SKELETAL muscle, depolarization of the membrane leads to coupled release of Ca2+ from sarcoplasmic reticulum via mechanically coupled channels. Does not exist in cardiac muscle, where extracellular Ca2+ influx is required to induce Ca2+ from SR to move out (RyR2 channels).

157
Q

Calmodulin vs. troponin?

A

Only in smooth muscle does Ca2+ bind to calmodulin instead of troponin. Calmodulin activates myosin light chain kinase, which phosphorylates myosin and allows it to bind to actin to cause muscle contraction.

158
Q

Lightning strike sequelae

A

Peripheral nerve damage, sz, confusion, respiratory arrest, autonomic dysfunction. Lictenberg figures. Rhabdo. Bone fx. comaprtment syndrome. Ruptured TM’s. Cardiac arrest, arrhythmia.

159
Q

Glutamate-glutamine cycle

A

In the brain, glutamate used for neurotransmission is taken up by astorcyte from cleft and converted into glutamine (non-active) substance. That is then sent over to the pre-synaptic neuron for change into glutamate.

160
Q

UVA vs. UVB?

A

UVB is major cause of sunburns, skin damage, imunosuppression, aging, etc. UVB is 290-320 nm while UVA is 320-400nm. PABA esters block UVB only. Zinc oxide-containing sunscreens protect against both.

161
Q

Golgi Tendon Organ f(x)?

A

Monitors and maintains muscle force during contraction. If too much force, will cause sudden muscle relaxation.

162
Q

Hyaline arteriosclerosis

A

Thickened walls with pink stained on H&E. Non-malignant hypertension and/or diabetes.

163
Q

Cystic Fibrosis clinical

A

Recurrent respiratory infections, malabsorption 2/2 pancreas, azoospermia 2/2 absence of vas deferens b/l

164
Q

Reye’s syndrome

A

Children w/ febrile illness treated with salicyclates. Hepatic failure and acute encephalopathy. Microvesicular steatosis.

165
Q

CA 125

A

Ovarian cancer tumor marker. NOT CEA.

166
Q

Von Hippel Lindau disease manifestations

A

Hemangioblastoma of cerebellum, kidney and pancreas cysts, pheochromocytoma, RCC

167
Q

What is a hamartoma?

A

Excessive growth of a tissue NATIVE to organ of involvement. Is NOT hemangioblastoma. IS the usual “coin lesion” on X-ray (cartilage, fat, SMC, clefts of respi. epi)

168
Q

Eccrine vs. apocrine sweat glands?

A

Eccrine sweat glands are mostly palms and soles. Apocrine sweat glands secrete into HAIR follicles, innervated by adrenergics and don’t function till puberty. Malodorous 2/2 skin commensal bacteria.

169
Q

An example of holocrine secretion on the skin?

A

Sebaceous glands secrete sebum along with dead cells b/c the secretory material comes out of burst cells.

170
Q

Presbyopia?

A

Due to denaturation of lens structural proteins -> worsened elasticity = inability to accomodate. In myopics, may lead to paradoxically improved long-distance vision.

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