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Complications and Etiology Flashcards

1
Q

CLL/SLL

A
  • Recurrent infections (S. pneumoniae, due to neutropenia and hypoglobulinemia - Indolent, incurable -transforms to DCBL - transform to AML Evans syndrome–> CLL+H.pylori+ITP
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2
Q

Cancers that transform DLBL

A

-CLL/SLL -Follicular Lymphoma

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3
Q

Hairy Cell Leukemia

A
  • Recurrent infections (common COD) - CHF Death due to anemia
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4
Q

Multiple Myeloma

A

-Recurrent infections (d/t neutropenia, and monoclonal Ig=lacks antigenic diversity) - Renal Failure (4 reasons): 1) AL amyloidosis 2) increased uric acid–>toxic to kidney tubules 3) increased serum calcium- stones and toxic 4) acute pyelonephiritis due to recurrent Kidney infections - hyperviscosity similar to waldenstrom - systemic amyloidosis restrictive cardiomyopathy Pathological bone fractures due to Lytic lesions

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5
Q

Osteoperosis

Complications

A
  • Pathological fractures–> DVT d/t immobility–> Pulmonary Embolus. (Most common COD) - Orthostatic Pneumonia
  • loss of height d/t compression fractures
  • Hip fractures (most common site)
  • Secondary OP Hyperparathyroidism, vit D or C def***, corticosteroids
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6
Q

Hyperparathyroidism

A

Pathological fractures d/t osteopenia Hypercalcemia: -arrythmias (most common COD) -acute pancreatitis (calcium activates pancreatic enzymes) -Kidney stones -nephrogenic diabetes insipidus and acute renal failure

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7
Q

Osteomalacia/Rickets

A

Pathological fractures–>DVT–>Pulmonary embolus

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8
Q

Scurvy

A

Fragile capilaries; venules–> subperiosteal hemorrhages defective osteoid synthesis–> microfractures Bony deformities

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9
Q

Pagets Disease (disease of osteocclasts)

A

Etiology: paramyxo virus (measles, RSV)–>IL6, p62 mutation) 3 stages: osteolytic, mixed, osteosclerotic comp: -pathological “Chalk stick Fracture” due to bowing of tibia–>pain -deformities–>pain (compressed nerves especially CNVIII) -degenerative joint disease–>pain Rare: -High output congestive heart failure due to increased angiogenesis involving osteoblast activity–>increased AV shunt (volume overload) -commonly leads to osteosarcoma -can lead to osteoclastoma

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10
Q

Alport

A

Et: type IV collagen defect, x-linked Comp: progresses to FSGS, loss of hearing and vision

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11
Q

Osteogenesis imperfecta (abnormal matrix production)

A

Et: Type 2 (collagen type 1&2 defect) -incompatible with life, in utero microfractures Type 1 (collagen type 1) -blue sclera comp: Pathological bone fractures increasing in intensity with age.

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12
Q

Ehlers Danlos

A

et: collagen type III (reticulin)-blood vessels.. comp: aortic dissection, osteopenic bone–>Kyphoscoliosis, spondolisthesis

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13
Q

Marfan’s

A

et: Fibrillin gene chromosome 15 comp: Aortic dissection, Mitral valve prolapse, aortic dilatation due to cystic medial necrosis, - eyes: subluxation of the lens-ectopia lentis

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14
Q

Osteopetrosis (osteoclastic failure) -abnormal modeling/remodeling

A

Et: Genetic mutation in Carbonic Anhydrase II Gene, Rank ligand gene or chloride channel gene Comp: Recurrent infections*, pathological fractures, extramedullary hematopoiesis–>hepatosplenomegaly, Compression of CN VII&VIII, Normochromic normocytic anemia–>COD*

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15
Q

Achondroplasia

A

et: FGFR3 mutation, gain of function AD

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16
Q

Osteomyelitis

A

Et: S. aureus (most common COD), GU infections (UTI, cystititis), IVDA: E. coli, Lkebsiella, Pseudomonas - direct inoculation mixed bacteria -Neonates: H. influenza, Group B streptococcus - Sickle cell anemia= salmonella comp: - extension into joint space= acute septic arthritis -Chronic osteomyelitis: Brodie abscess- intracortical abscess Sclerosing OM of Garre at the jaw= extensive new bone obscuring the underlying bone Secondary amyloidosis Squamous cell carcinoma of fistula

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17
Q

Potts disease

A

et: hematogenous spread of tuberculosis comp: psoas abscess- cold abscess d/t minimal inflammatory response/no spiking fevers seen in the normal abscesses - myelophisic- metastasis to the bone–>caseating granulomas replacing normal bone marrow–> inadequate cell formation -amyloid deposition (eosinophilic glassy materila) in the kidney - Kyphosis & scoliosis -compression of spinal nerves

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18
Q

Osteoarthritis -non-inflammatory*

A

ET: age, recurrent trauma, obesity Comp: Joint mice - osteophytes in spine (spinal nerve compression) - following knee or hip surgery–>septic arthritis (most common cod)

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19
Q

Rheumatoid

A

ET: HLA DRB1, coexists with autoimmune conditions (mostly Primary biliary cirrhosis) Comp: -AA amyloidosis (systemic)–> Nephrotic syndrome–>anarsaca and restrictive cardiomyopathy in heart–>arrythmias -Atheroslerotic plaques–>MI in adults (most common COD) - recurrent infections–>most common in kids - Episcleritis - Rupture of Baker’s cyst–> mimics DVT - Ulnar deviation of fingers - Swan neck deformity- flexion of DIP & hyperextension of PIP - Boutouneire’s- Hyper extension of DIP and flexion of PIP Rheumatoid nodules**–>central fibrinoid necrosis surrounded by histiocytes & chronic inflmmamtion cells - fibrous ankylosis=fusion of the joints -subluxation of C1-C2 (Atlanto-axis joint) - carpal tunnel syndrome - Lung involvement- pleural effusions and end stage lung disease Acute necrotozing Vasculitis: -heart–>MI -Brain—>cerebrovascular occlusion -Kidneys–> renal failure - Mesentery –> red infarction in GI/mesenteric ischemia - Gangrene of digits Chronic analgesic abuse–> ureteric obstruction–> bilateral necrosis of renal papillae

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20
Q

Osteioid Osteoma

A

ET: tumor of younger males Complications: appendicular skeleton - nocturnal pain relieved by ASA

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21
Q

Osteoma

A

ET: benign tumor of mature bone, craniofacial bones Ass: Gardners syndrome=FAP + multiple osteomas, desmoid tumor and epidermal cysts

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22
Q

Osteosarcoma (tumor of osteoblasts)

A

ET: primary-mutation in p53, MDM2 (inactivates apoptotic capacity of p53) and RB, secondary: pagets disease - metaphyseal long bones in kids, flat bones in elderly-bimodal Comp: hematogenous spread, hemoptysis, chest pain and breathlessness.

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23
Q

Osteochrondroma

A

Et: displaced fragments of the growth plate, clonal proliferation (neoplasm), EXT gene family mutations -only in bones with endochondral ossifications Comp:

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24
Q

Echondroma - “benign tumor of cartilage (hyaline & myxoid) originating from metaphyses”. -“O ring sign on X-ray”

A

Et: 20-40 year olds -Olliers: multiple enchondromas on one side of the body–>increased risk of chondrsarcoma (20%)–>disfiguring -Mafucci: 20% chance chondrosarcoma/ 100% chance soft tissue angiomas, CNS gliomas & ovarian carcinomas COMP: bone pain and pathological fractures

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25
Q

Chondrosarcoma

A

Et: 30-60yrs, can follow olliers or mafucci from metaphysis but majority arise sporadically from epiphysis -axial skeleton Comp: -Bone pain, pathological fractures -High invasive–>metastasis to lungs–>hemoptysis

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26
Q

Osteoclastoma (Giant Cell tumor)

A

Et: 20-40yrs, pagets, benign tumor of mesenchyme Comp: Pathological fractures, can metastasize to lungs via blood, high RECURRENCE after surgery.

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27
Q

Ewing’s Sarcoma

A

Et: Primitive Neuroectodermal tumor (PNET) - t(11:22) or t(21:22) translocation Prognosis: dismal but improves with chemo -In 99% of people with Multiple Myeloma

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28
Q

Fibrocystic Change (“Lumpy Bumpy Breast”)

A

Et: Exagerated response to Estrogen occuring at the terminal duct lobular unit

age: 35-40
- oral contraceptives reduce risk of FCC

two types:

  • simple/ non-proliferative- no malignant potential
  • Prolifertive: epithelial hyperplasia–>increased malignant pot.
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29
Q

Duct ectasia (aka Plasma cell mastitis, granulomatous mastitis)

A

Et: dilated duct raptures–> inflammation, plasma cells, histiocytes, giant cells, granulomas

mimics carcinoma clinically (so does Traumatic fat necrosis)

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30
Q

Fibroadenoma

A

Et: not caused by estrogen!!

  • most common benign tumor of the breast (“breast mouse”)
  • Neoplastic cells in the intralobular stroma
  • unilateral in women of reproductuve age
    comp: No malgnancy
  • Pericanalicular
  • Intracanaloicular
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31
Q

Phylolloides Tumor (Cystosarcoma phylloides)

A

Et: Intralobular stroma (periductal)

  • post menopausal women (>50yrs) with unilater pendulous breast
    comp: beningn, borderline or malignan
  • hematogenous spread (no lymphadenopathy)-Lungs first (LLBoneBrainK)
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32
Q

Intraductal Papilloma

A

ET: lacteriferous ducts, (35-55)

–common cause of muco discharge in young women

  • no inflammation becausd no infection
  • myoepithelial cells are the Gate keepers

Comp:

  • The more INtrductal papilloma the higher the risk of cancer–>papilllomatosis–>Papillary carcinoma of the breast *
  • Invasion of the fibrovascular core d/t absencer of myoepithelial cells & most commonly seen in post-menopausal women
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33
Q

Breast Cancer

A

Pre disposing factors: female, increased age, BRCA, Her2Neu, p53, obesity (d/t increased estrogen), early menarche & late menopause, family history, race/ethnicity, ERT, granulosa theca ovarian tumor (d/t increased estrogen)

origin: termonal duct lobular unit
- elderly women=age
- middle-age women=family history & then nulliparity

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34
Q

Comedo

A

Et: intraduct tumor (high greade DCIS)

  • necrotic center (toothpaste)
    comp: high recurrence rate , upto 60% become invasive.
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35
Q

Invasive Duct Ca

A

Et: commonest (75%)

sciirhous- hard, dense, desmoplasia (cords and nests of cells) 3-4cm

-necrosis, calcifications

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36
Q

Other Carcinomas of the Breast

A

Mucinous (colloid) Ca.

-good prog. associaed with solid/non-invasive papillary Ca.

Medullary Carcinoma - (dysgerminma of ovaries and seminoma of testes-fried egg appearnce)

  • No outer myoepithelai layer, chemo works
  • fleshy, soft

Infllammatory carcinoma (african american womne)

-poor prognosis

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37
Q

Simple (non-neoplastic) cyst

  • Follicular
  • Corpus Luteal cyst
A

Follicular

Et: increased estrogen-lined by granulosa cells

-seen with PCOD

Corpus Luteal cyst

-Et increased progesterone

seen in type 2 diabetes

Comp: rapture, torsion, no malignancy

present likr appendicitis

yersinia enterocolitis can mimic

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38
Q

Chocolate cysts of the Ovary

A

Et: endometriosis (repeated cyclical hemorrhage)–>induce fibrosis, adhesions, severe oain

Complication:

Clear cell Adenocarcoma (uncommon)- associated with endometriosis; agressive

Infertility (d/t tubal scars)

regression following oral contraceptives

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39
Q

Polycystic Kidney disease

A

Comp: diabetes, infertility, increased estrogen (fibrocystic change in breast and endometrial hyperplasia/casrcinoma), fibroadenoma/leiomyoma grow bigger

TXT: Clomiphine-induce ovulation

metformin-Diabeter melitis (increases insulin sensitivity), Birthcontrol-regulate menstrual cycle, spirinolactone- hirsutism

>3 LH:FSH

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40
Q

Serous Ovarian tumor (most common ovarian tumor)

-surface epithelial tumor-

A

Et: Looks like fallopian tube

Benign, Borderline and Malignant (low grade-KRAS, BRAF-high grad-p53, BRCA)

(unilocular), papillary projections & psammoma bodies

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41
Q

Mucinous Ovarian Tumor

surface epithelial tumor

A

Et: look like endocervix/intestine

No papillae or PSaMMoma

Comp: “Jelly Belly”/pseudomyxoma peritonei–>in borderline and malingnant stage

  • Most common cause = adenocarcinoma of the appendix
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42
Q

Endometroid Tumors

surface epithelial tumors

A

Et: PTEN, KRAS, Beta-catenin, MSI

  • solid & cystic, velvety surface
  • resembles endometrial Ca-Not normal endometrium (as seen in endometriosis)
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43
Q

Brenner’s tumor -surface epithelial tumors-

A

ET: like transitional epithelium

  • spindle cells with nests of urothelium
  • solid but bening

Complication: Torsion No rupture b/c solid tumors dont rapture

4Bs: Brenner, Benign, coffee Bean nucleus, Bladder like epithellum

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44
Q

Mature Cystic Teratoma/Dernoid Cyst

A

Et: germ cells

Comp: rupture, torsion, infertility, transformation to invasive squamous cell carcinoma

commonly on the right

45
Q

Immature Teratoma (Malignant teratoma)

-germ cell-

A

Seen in young women (18 years)

  • presense of neuroepithelium–>malignancy
    comp: Bulky, solid, hemorrhage, necrosis
46
Q

Specialized Teratoma

-Germ cell-

A

Struma Ovarii;

et: germ cell

PG: thyrotoxicosis d/t T3/T4 production

comp: suppresses TSH–> thyroid Atrophy

Cacrinoid Tumor:

  • Carcinoid syndrome (increased serotonin)
  • Neuroendocrine origin= salt & pepper appearance
    comp: episodic flucshing, wheezing & diarreahea

Both are asymptomatic b/c rarely functional

Struma Carcinoid: combined

47
Q

Endodermal Sinus Tumor (Yolk Sac)

-germ cell-

A

Et: children & younger woman, derived from yolk sac

tumor marker=AFP & Alpha 1 antityrypsin

Schiller-Duval bodies: layers of epithelial cells around blood vessels-resemble glomeruli

48
Q

Dysgerminoma (oocytes)

-germ cell tumor-

A

Et: unilateral solid mass & malignant-seen in TURNER’S PATIENTS d/t gonadal dysgenesis

lymphocytic infiltration,

Cured by, surgery, radiosensitivity

marker: LDH due to syncytiotrophoblasts

unilateral solid tumor

comp: torsion

49
Q

Ovarian Choriocarcinoma

(Non-Gestational)-germ cell-

A

Et: young girls (<18years) with amenorreah & exaggerated morning sickness d/t increased B-hCG

-malignant cytotrphoblasts and syncytiotrophoblasts secreting B-hCG (usually only Syn. scretes)

Marker B-hCG, no chorionic Villi

hematogenous spread not lymph (LLBBK)

complication: bad prog. unresponsive to chemo because no paternal Antigens (which are found only in gestational choriocarcinoma)
- note dont confuse hsitology with osteoclastoma

50
Q

Granulosa Theca Cell tumor

-sex cord tumor-

A

et: predominantly in post menopausal women
- increased ESTROGEN
marker: tissue inhibin (inhibits FSH)
- Call-Exner bodies=cuboidal granulosa cells arranged around a central lumen

Comp: metastasis, follicular cysts in other ovary, increased estrogen (breast cancer, FCC, endometrial carcinoma, enlargment of leiomyoma/fibroadenoma, precocious puberty)

51
Q

Fibrothecoma

-sex cord-

A

benign

pure fibroma + right sided pleural effusion + ascites= Meig’s syndrome & basal cell nevus syndrome/Ghorlin syndrome

comp: torsion

52
Q

SERTOLI-LEYDIG CELL TUMOR (androblastoma)

A

Et: 20-30yrs

Reinke crystals

comp: defeminization, Masculinization

53
Q

Krukenberg Tumor

A

Et: secondary ovarian tumor d/t meatstasis to both ovaries

3 different sites of sites: diffuse gastric carcinoma (linitis plastica>Colon cancer> Invasive lobular carcinoma of the breast

PAS +ve, always Bilateral, CEA

-all 3 tumors have E-cadherin mutations

comp:

54
Q

Chocolate cysts

A

Et: endometriosis-repeated cyclical hemmorhage

COMP: infertility, Pain

55
Q

Endometrial Hyperplasia

A

Simple (with/without atypia)= less glands

complex (with/without) atypia= more glands

ET: unopposed estrogen

  • Obesity, granulosa theca cell tumor, menopause, type 2 diabetes, metabolic syndrome, tamoxifen, ERT, PCOS, zona reticularis (produces androgens) of adrenal cortex, PTEN.

Comp: Endometrial carcinoma if atypia is present

56
Q

Endometrial

A

Et: 55-65 yrs, unopposed estrogen in post or peri-menopausal women

obesity, granulosa theca cell tumor, menopause type 3 diabetes, metabolic syndrome,tamoxifen, ERT, PCOS, zona reticularis (produces androgens) of adrenal glands

Precursor lesion: endometrial hyperplasia WITH ATypia

Endometioid (type 1): indolent

  • -Peri-menopausal women
  • -PTEN mutation
  • -Glands on histology
  • Endmetrial hyperplasia

Serous (type 2): aggressive

  • Elderly women (post-menopausal)
  • p53 mutation
  • papillary with psmmoma bodies
    • endometrial atrophy

COMP: spread to cervic, vagina, liver, lung, brain & bone via LYMPH

57
Q

Malignant Mixed Mullerian Tumor (mixed mesodermal tumor/ carcinosarcoma)

A

Et: > 55 years women

comp: poor prognosis, high grade

58
Q

Uterine fibroids/Leiomyoma

A

Et: Unknown

common in nulliparous African American women

59
Q

Hydrocephalus

A

Path:

communicating-all ventricles dilate

  • Normal pressure: dementia, ataxia & urinary incontinence
  • Pseudomotor cerebr (benign intracranila HTN)- females, obese, headaches & vision loss

Non-communicating- obstruction (usually by tumor) b/w the lateral & 3rd ventricle or b/w 3rd &4th

hydrocephalus ex vacuo

COMPs:

  • cushings’s reflex- triad indicating an impending herniation-elevated systolic pressure (wide pulse pressure), Bradycardia, irredular repsirations,
  • Tonsillar herniation (through foramen magnum- immediate death) or trans-tentorial/uncal herniation (–>ipsilateral pupillary dilation d/t compression of CN III)
60
Q

Epidural Hematoma

A

Et: temporal side of the head–>fractured pterion–>middle meningeal artery

lucid interval–>talk & die

Comps:

Uncal herniation [small flame shaped hemorrhages in the pons on autopsy]

61
Q

Subdural Hematoma

A

Et: Rapture of bridging veins; recurrent falls in elderly–>stretch veins–>rupture; alcoholism–>cerebral atrophy; Shaken baby syndrome d/t thin walls of veins

Comp: Uncal herniation

62
Q

Cerebrovascular disease

A

Infarct:

-loss of adequate blood supply. Thrombosis or Emboilzation

Hemorrhage;

  • Intraparenchymal: Hypertensive (basal ganglia, brainstem, cerebellum); other (often lobar-example amyloidosis), arterial venous
  • subarahnoid: usually from aneurysm rupture
63
Q

Intraparenchymal/ Intracerebral Hemorrhage

A

Et:

  • Long standin benign HTN–> hyaline artiosclerosis
  • Non-hypertensive hemorrhages**: arerial-venous malformation; Cerebral amyloid angiopathy + HTN
  • Cocaine

Comp: Herniation & death

64
Q

Subarachnoid Hemorrhage

A

Et: Berry aneurysm

Associated ih Marfan’s, Ehler’s Danlos, ADPKD

comp:

Ischemic stroke from cerebral vasospasms

comminicating hydrocephalus

65
Q
  • hydrocephalus
A

Pa:

  • Communicating
    • Normal Pressure: Dementia, ataxia, urinary incontinence (respond to LP/shunt)
    • Pseudomotor cerebri (benign intracranial HTN): female, obese, headaches & vision loss
      • Non communicating: blockage between 3rd & 4th ventricle–>dilatation of ventricles proximal to the obstruction- Most common location: foramen of Monro
  • Hydrocephalus ex vacuo- dilation of all ventricles due to cerebral atrophy (alzheimers, Niemann Pick)–>compensaory increase in CSF

COmp:

  • Cushings reflex: triad indicating an impending herniation:
  1. Elevated systolci pressure (eide pulse pressure)
  2. Bradycardia
  3. irredular respirations
  • Tonsilar herniation

;

66
Q

Epidural Hematoma

A

Comp: Uncal herniation

67
Q

Subdural Hematoma

A

Et: Rupture of Bridging veins (low pressure so gradual onset)

  • Recurrent falls in elderly
  • alcoholism
  • shaken baby syndrome d/t thin walls of veins

COMP: Uncal herniation

68
Q

Coup/contre-coup contusions

A
  • CSF cushion
  • Bony ridges
  • Stationary head
  • accelerating head
69
Q

Diffuse Axonal Injury (DAI)

A
  • Rotational acceleration
  • Shearing of axons as they are stretched beyond elastic point with roatational force
    • No Lucid interval-unplugged
70
Q

Concussions

A

transient and highly variable disturbance of neurological function following trauma

  • Blow to the head is not required
  • predispostions: APO-E genotype, other..
  • Repeated insults (boxing, football, hockey..) may increase risk for neurdegenerative disease
  • Theories:microscopic membrane injuries, disruption of BBB, convulsive
    • key to detection of subtle injury? Baseline data
71
Q

Cerebral infarct

A

Et:

  • Thrombotic/ischemic stroke=HTN–>thrombosis–>bland infarct
  • Embolic stroke= atrial fibrillation + mural thrombus in left heart–> legs (DVT)-legs most common- or brain (red infarct)
  • Carotid artery dissection (young-middle aged)-mild trauma–>occludes lumen & causes stroke (extension to adventitia causes subarachnoid hemorrhage

COMP:

  • Contralateral hemiparesis & sensory loss
  • affecys cerebellum (D-DANISH)-dysarthria, dysdiadochokinesia, dysmetria, Nystagmus, intention tremor, Slurred speech, Hypotonia
  • affects Broca’s area–> aphasia
72
Q

Intraparenchymal/Intracerebral Hemorrhage

A

ET:

  • Long standing benign HTN–>hyaline arterioslerosis (bland “Lacunes”)
    • Malignant HTN–>direct rupture of arteries (w/out aerteriosclerosis)
  • Non-hypertensive hemorrhages:
    • Arterio-venous malformation- greatest pnot form hemorrhage (3-4th decade)
      • Cavernous hemangiomas, capillary telangiectasiasis
    • ​Cerebral hemorrhage angiopathy + HTN–>hemorrhage in basal ganglia
  • COCIAINE!!

Comp:

Longstanding HTN–>hyaline arteriosclerosis of lenticulostriate arteries–> Charcot Bouchard Aneurysm (slit hemorrhages)

  • herniation & death (more common than ishemic stroke)
73
Q

Subarachnoid Hemorrhage

A

Et:

  • Berry aneurysm (born with malformation in the IEL of media of the vessels, Not a berry aneurysm)
    • other aneurysms: Giant fusiform (Basilar artery); Mycotic aneurysomM: healed arteritis after emboliztion of infected thrombus (endocarditis); Traumatic & dissection
  • Associated with Marfan’s, Ehler’s Danlos, AD Polycystic Kidney disease

Comp:

  • ischemcic stroke from cerebral vasospasms
  • communicating hydrocephalus
  • mimics meningitis
74
Q

Brain Abscess

A

Et: Two routes of spread: Hematogenous (septic emboli or sepsis); Contigual/direct spread 9sinusitis, mastoiditis, otitis media& dental infections

Comp: Rupture into venticles–>ventriculitis–>obstruction of ventricles–>hydrocephalus

75
Q

Alzheimers

A

Et: -Occipital lobe is spared-

  • starts in temporal (hippocampus)–>frontal & parietal

80% sporadic-age

20% are hereditary

  • Downsyndrome (APP is on Ch 21)
  • Early onset AD:
    • APP (ch21), presenillin (ch1 & 14), chlustering (ch 8) & complement receptor-1 (ch 1)
  • Late onset AD:
    • Apo E genotype (ch 19)
      • ApoE4-increases the risk of AD
      • ApoE2-decreases the risk of AD

COMP:

  • Most commn cause of death- Aspiration pneumonia
  • Hydrocephalus Ex Vacuo
  • Bed sore/pressure sores & DVTs–> pulmonary embolus (can lead to lung abscesses involved with AA amyloid)
  • Cerebral amyloid agiopathy–> lobar hemorrhages (no history of HTN)
    • deposition of amyloid (homogeneous eosinophilic materla) in the walls of cerebral vessels
76
Q

Parkinson’s

A

triad: tremor, rigidity, akinesia

Et: Most cases sporadic; mutation in the synuclein gene (a component of Lewy bodies)

  • Non- degenerative causes= medication, cocaine abuse
  • atrophy of Substantia Nigra & presence of lewy bodies
77
Q

Huntingtons

A

Et: CAG repeats with genetic anticipation–>gain of function mutation

AD-males=females

Caudate and Putamen atroph

less atrophy of GP or cerebral cortex

78
Q

ALS/Lou Gehrig’s disease/ Motor Neuron Disease

A

Et: affects middle-aged

  • Mutations: Ch9 hexanucleotide repeat (C9ORF72)
  • SOD-1
  • Pathogenesis:
    • Neuronal loss in spina cord ant. horns (motor cortex)
    • -intelletc, sensatio, sphincter control and eye movemnts spared
    • life expectancy 2-5years (10% hereditary)
  • cytoplasmic inclusions:
    • Ubiquitin (a protein deposited in response to cell injury)
    • TDP-43, FUS (DNA/RNA binding/stabilizing proteins)55
79
Q

Multiple sclerosis

A

Et:

  • multifactorial, prevalent in temperate climate (caucasian female in temperate climate)
  • Autoimmune HLA-DR2 & DR15–>ABs destroying oligodendrocytes
    • Other risk factors: smoking, low vitamin D, EBV, maternal history & move to endemic area before puberty
  • Commonly affects CNII–>optic neuritis–>pain on eye movement, blurred vision and diplopia
  • destruction of MLF–>internuclear ophthalmoplegia–> ipsilateral eye cannot adduct while contralateral eye undergoes nystagmus
    • Argyll Robertson syndrome-bilateral small pupils
  • cerebellum, brainstem & spinal cord can be afeccted
  • Bladder–>stasis–>UTI
80
Q

Post-infection demyelination

A

Et:

  • Following flu like illness
    • Occasionally following vaccination
  • Acute inflammatory encephalopathy
    • with AHEM or, without (ADEM) hemmorhage
81
Q

Myelinloysis

A

Central pontine myelinolysis

Extra-pontine myelunolysis:

  • pathogenesis: unknown
    • renal or hepatic disease
    • severe
    • congestive heart failure
    • SIADH
82
Q

Wernicke’s Encephalopathy

A

Et:

  • Thiamine def:
    • Encephalopathy, confusion
    • ocular palsies
    • ataxia
      • korsakoff’s psychosis: no new memories
  • Key Targets:
    • Mamillary bodies, thalamus, periaqueductal gray matter
83
Q

Oligodendroglioma

A

3rd-4th decade

indolent course and often calcified

Et: Loss of hterozygosity for ch1 and ch19

God prognosis becaus chemosensitive!

-better prognosis if 1p and/or 19q deletions

84
Q

Pilocytic Astrocytoma

A

Most common primary CNS tumor in childhood

well-differentiated glioma in the cerebellum & hypothalamus

  • composed of compactly & loosely arranged delicate hair like astrocytes
  • CT/MRI: c ystic with enhancing rim & mural nodule
  • cured by resection
85
Q

Glioblastoma Multiformes

A

Older patients

high grade astrocytoma

Tumor marker GFAP (glial fibrillary Acidic protein)

poor prognosis: infiltrate, unresectable & resistant to treatment

Better prognosis: younger, -EGFR, + IGH, + p53, + MGMT methylation

86
Q

medulloblastoma

A

Et: arises from vermis of cerebellum and can co-exist with ewing sarcoma

homer-wright rosettes (pseudorosettesz)

cerebellar signs (D-DANISH)

complications :

  • Malgnant tumor–>CSF spread–>ventricles–>hydrocephalus
  • Drop metastasis
87
Q

Sarcoma Botryyoides (Embryonal Rhabdomyosarcoma)

A

girls<5years old

“bunch of grapes”-polypoid friable mass hangning in vagina

HIGHLY MALIGNANT, malignant rhabdomyoblasts, cambium layer, fibromyxomatous stroma

Require surgery + chemotherapy

Histology: rhabdomyoblasts (precursors of skeletal muscle)

88
Q

Partial Mole

A

2 sperms 1 normal ovum

69 chromosomes (69, XXY)

fetl tissue present

some villi ae hydropic

focal trophblastcic proliferation

COMP: Bilateral theca Lutein cysts

89
Q

Complete Mole

A

Empty ovum + 2 sperm

56 chromosomes (46XX or 46 XY)

Fetal tissue absent

most vilii are hydropic

fDiffuse trophoblastic proliferation

COMP:

  • Bilateral theca lutein cysts due to B-hCG
  • invasion of myometrium
    • gestational choriocarcinoma (goes unto endometrial cavity)
90
Q

Vulvul Intraepithelial Neoplasia (VIN)

A

Risk factors: HPV, 16, 18, 31, 33, (45)

40years

smoking

immunosuppressed

50-60% have syynchronous lesions in the cervix, vagina, urethra, anus

35-59% recur after local treatment

VIN III: Bowen’s disease (carcinoma in situ)

  • Leukoplakia
  • or reddish brown plaque
    • needs surgical excision
91
Q

Carcinoma vulva

A

>60 years

plaque, nodule, ulcer

anterior 2/3 of labia majora

squamous cell carcinoma (usuall invasive on labia minora)

Inguina and pelvbic node

92
Q

acute Tubular necrosis

A

Et: ischemic & toxic

3 phases:

  1. Initiation phase (36 hours):
    • acute decrease in GFR & rapid increase in serum Cr & BUN
  2. Maintenance phase
    • plateau of BUN and Cr
  3. Recovery phase

COMP:

  • Ischemic insult–> hypotension, vasodilatory (septic shock), systemic infection, hemorrhage shock (GI bleeing), hypovolemic shock (vomiting, diarreah)
  • Nephrotoxic:
    • Exogenous= aminoglycosies
    • Endogenous=hemoglobinuria & myoglobniura
93
Q

Acute pyelonephritis

A

Et: E. coli (most common cause)

ascending infection or hematogenous spread

  • seeding of kidney from sepsis or endocarditis
  • symptoms of cystitis: increased urinary frequency, urgency , dysuria & suprapubic pain

complications

3P’s: pyonephrosis, papillary necrosis & perinephric abscess

94
Q

Papillary Necrosis

A

Et:

  • chronic anlagesic abuse (ASA (arpiri/NSAIDs), caffeine, acteminophen, codeine

Pa:direct toxic effects=acetminophen

Ischemic effect= ASA

–>causes chronic tubulointerstitial nephritis

Intravenous pyelogram (IVP): ring defect at the tips of minor calyces

  • Papillary necrosis pyelonephritis:
    • Pa: interstitial inflammation compress medullary vasculature–. ischemic 7 paillary necrosis
    • treat underlying infection
95
Q

renal stones

A

ET: Men>women (20-30yrs old)

types: Calcium oxalate/phosphate (75%), struvite-Mg/ammonium phosphate- (10-15%), uric aid (5%) & cystine (1-2%)

silent in renal pelvis, symptomatic in ureter

Prevention; high fluid intake, low sodium & alkaliniaztion of urine

Comp: renal failure < 5mm stones pass though

96
Q

RCC

A

Etiology: proximal tubule cells arising from cortex (VHL tumor suppresor gene -ch3p)

  • sporadic (60 yrs): unilateral, unifocal
  • hereditary (5%)- younger adults-Bilateral and multifocal
    • associated w/ pheochromocytoma, cerebllar & retinal hemangioblastomas
  • 3 types
    • clear cells (most common)=glycogen & lipids
    • Papillary-psammoma bodies
    • chromophobe
  • Triad: Painless hematuria, flank oain & flank mass
  • comp:
  • subtotal nephrectomy leads to FSGS
  • sticks under endothelial cells–> right heart via IVC (invades vessels)
    • can cause renal vein thrombiosis–> left testicular vein–>varicocele
97
Q

WIlms Tumor

A

Et: WT1 & WT2 on short arm of ch 11

histology; Triphasic all are malgnt

Blastemal

stromal/mesenchymal

Epithelial

98
Q

HORSE SHOE KIDNEY

A

ass: edwards (ch18) & turners disease and wilms tumor

asymptomatic

complications are rare:

  • d/t kinking of urterter–> hydronephorsis–>recurrent kindne stones/infection
  • RCC
99
Q

Bladder cancer

A
100
Q

Testicular tumors: epidemiology

A

1% of all cancer death.

  • more common in white americans as compared to asians & africans
  • ETIOLOGY;
    • Isochrome i(12p)
    • Cryptorchidism (10%)
    • Testicular dysgenesis (Klinefelter’s syndrome)
    • Others: radiation
101
Q

Testicular Tumor

  • Trimodal age distribution:
A
  • Infant & children: teratomas & yolk sac
  • 15-30 years; mixed germ cell tumor
  • 30-50 years: seminoma
  • >60 years: Lymphomas
102
Q

Type 1 diabetes

A

Etiology:

  • Coxsackie B4, Rubella Mumps
  • HLa DR3 & DR4/DQA1 & DQB1

Complication:

silent MI due to peripheral neuropathy

  • Diabetic Ketoacidosis triggered by infections (pneumonia, UTI)–> increased cortisol–> anatagonizes insulin, favoring gluconeogenesis–>worsens hyperglycemia
    • Severe hyperglycemia–>osmotic diuresis & gross dehydratoin
    • Ketone bodies=acetoacteic acid, B-hydroxybutyrate
    • Treat with insulin, fluids & K+
  • Hypoglycemia d/t insulin overdose
    • symptoms: confusion(brain deprived of glucose), sweating, seizures, coma
    • txt: dextrose infusion, IM glucagon–> down regulates insulin
  • Lactic acidosis-d/t anaerobic glycolysis
103
Q

Type 2 Diabetes

A

Etiology:

  • obese (d/t insulin anatgonists-FAs & TNF) & >40 years old
  • associated with PCOS
  • Morre genetic predispostion than Type 1
  • Primarily B-cell defect [genetic] + peripheral insulin resistance [obesity]
    • hence, no DKA intially but can get it when there is pancreatic burn-out (becomes simila to Type 1)
  • Histology
    • Localized amyloidosis (also seen in medullary carcinoma of the thyorid)

Complications:

Silent MI due to peripheral neuropathy

  • Hyperosmolar, non-ketotic coma d/t dehydration + hyperglycemia
  • Lactic acidosis- d/t anaerobuc glycolyisis
104
Q

Diagnosis of both Type 1 & Type 2 Diabetes

A
  • 2 samples of fasting blood glucose > 126mg/dl [hyperglycemia]
  • Random blood glucose >200mg/dl with symptoms of Polyphagia, polydipsia and polyuria.
  • HbAc1 > 6.5% is diagnostic but more useful for evaluation of lonterm glycemic control1
  • 2 hr plasma glucose > 200mg/dl during OGTT (overnight + 75mg glucose)
    • Tests residual capacity of pancreas- challenges the pancreas to make insulin
105
Q

Acromegally

A

Et:

  • Execessve GH after fusion of the epiphysis (part of MeN-1 syndrome due to MEN 1 gene mutation)
    • MEN1 (PPP):
      • Parathyroid adenoma/hyperplasi (primary hyperparathyroidism. Stones (kidney stones), Bones (osteoporosis), groans (GI symptoms)
    • Anterior Pituitary Adenoma
      • GH adenoma–>GH–>IGF1-somatomedin- (liver)
        • GH–>anatgonizes insulin–>type 2 diabetes & simultaneous reease of prolactin 9inhibits GnRH)–>decreased LH, FSH
      • Can lead to Pan-hypopituitarism:
    • Pancreatic Tumor (VIPoma, Zollinger Ellison gastrinoma, Insulinoma)

Comp:

  • Diabetes, obstructive sleep apnea, osteoarthritis, carpal tunnel, bitemporal hemianopsia, neolastic polyps & heart failure (most common CoD d/t cardiomegaly + concentric hypertrphpy from HTN)
  • TXT: transphenoidal surgery
106
Q

Diabetes insipidus

A

Etiology;

  • Central DI: absolute def. of ADH
    • Hypothalamic/pituitary
  • Nephogenic DI: resistance to ADH action
    • Genetic,, metabolic (hypokalemia, hypercalcemia) or lithium
    • Hypercalcemia causes aquaporin in CD to be insenstive to ADH–> decreases urin osmolality–> polydipsia & polyuria
    • INvestigation: water deprivation test
107
Q

Grave’s Disease

A

Et: females 20-40 yrs old

  • Triad:
  • most common cause in US -Type II HSN (TSIg mimis T3/T4)–> T cells induce B cells to mak IgG antibodies agains TSH receptors (stimulating Abs)
    1. Thyrotoxicosis (hyperparthyroidim –> difuuse goiter–>hear bruit)
    2. Ophthalmopathy (exopthalamos b/c fibroblasts have TSH receptors)
    3. Pretibial myxedema (non-pitting edema b/c fibroblasts have TSH receptors–> GAGs)

Complications:

Atrial fibrillation–> arrythmias (most common COD)

108
Q

Hashimoto’s Disease

A

Et: Most common cause of hypothryoidism in the US, world wide=iodine def.

  • autoimmune destruction of thyroid glands (HLA DR5, DR3)

Invest:

  • Radioactive iodine uptake = cold nodule
    • benign nodules= hot or cold
    • Malignant nodules= ALWAYS cold!
  • decreased T3 & T4, increased TRH & TSH
    • Increased TRH–> increased prolactin–>blocks GnRH–>no fsh or LH
  • Antibodies: Anti-thyroglobulin, anti-thyroid peroxidase & anti-microsomal (anti-thyroxidase)

Complications:

  • Monoclonality of germinal center–> Non-Hodgkin’s B Cell lymphoma!!!
  • atherosclerotic plaques–> MI, stroke, peripheral vascular disease
  • Cretinism in children–> (6P’s) Pot belly, protruding tongue, pale, puffy faced, poor brain, protuding umbilicus
109
Q
A

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