Shared Flashcard Set

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General Pathology
Pletcher material & Slide review
35
Medical
Professional
06/26/2009

Additional Medical Flashcards

 


 

Cards

Term
What percent risk is associated with Autosomal Dominant disorders being passed on to children of an affected parent?
Definition

 

50%

Term
In what kind of inheritance pattern could you see father to son transmission of a disease?
Definition

 

Autosomal Dominant

 

(or Y-linked)

Term

True or False?

 

X-linked traits show up more frequently in females.

Definition

False

 

- Show up more commonly in males

- only one X so no second to compensate

Term

What autosomal dom. disease is associated with:

 

axillary or inguinal freckles

 cafe au lait spots

 long bone abnormalities

optic nerve gliomas

spinal cord tumors

Definition

Neurofibromatosis

 

 

- also includes development of neurofibromas anywhere on body

- commonly includes macrocephaly, mild LD, scoliosis

Term

True or False:

 

There is no father-to-son transmission of either X-linked recessive genes, nor X-linked dominant genes.

Definition

True

 

 

-Affected males have carrier daughters for XLR

and affected daughters for XLD

Term

What disease am I?

 

long, narrow face & prominent ears

enlarged testes

mental retardation

high, narrow palate

Definition

Fragile X syndrome

 

- not purely X-linked

- X-linked due to triplet repeat expansion upstream of FRAXA gene

- seen more in boys w/ accompanying MR but can occur in girls with accompanying LD

Term

What disease am I?

  • delayed dental eruption
  • dentinogenesis imperfecta
  • increased risk for fractures
  • blue sclera
  • hearing loss
Definition

OI

(osteogenesis imperfecta)

 

severity:  II>III>IV>I

 

 

 

Term

Which subtype of OI is caused by new collagen mutations?

Which is caused by decreased collagen production?

Definition

Type II caused by new mutations (usually fatal)

 

Type I is caused by decreased production (least severe)

Term

 

What disease is caused by a deletion of 7q?

 

What are its symptoms?

Definition

Williams syndrome

 

hypercalcemia

periorbital fullness & full lips

moderate MR
narrowing of aorta (supravalvular aortic stenosis)

exceptional musical and verbal skills

Term

What disease is caused by a deletion of 22q11?

 

What are its symptoms?

Definition

DiGeorge/velo-cardio-facial syndrome

 

hypocalcemia

long, narrow face

mild MR or LD
T-cell defects --> immunodeficiency

conotruncal heart defects

Term

Which type of Trisomy am I?

 

- polydactyly

- holoprosencephaly

- seizures

- severe MR and poor survival

Definition

Trisomy 13

 

- also includes micro-opthalmia & IUGR

Term

Which Trisomy am I?

 

- bird-like faces

- clenched fists

- rocker-bottom feet

- sever MR and poor survival

Definition

Trisomy 18

 

- also inclued IUGR

Term

What disease am I?

 

- Autosomal dominant with incomplete penetrance for clefts

- Clefting with associated lip bumps or pits

- hypodontia, usually anteriors or bicuspids

Definition

 

van der Woude syndrome

Term

Which sex chromosome variation am I?

 

- short stature

-ovarian dysgenesis

- webbed neck

- coarctation of aorta

- possible LD or spatial disabilities

Definition

Turner Syndrome (XO)

 

 

- can include edema of hands & feet at birth

Term

Which sex chromosome variation am I?

 

- tall stature

- infertility

- gynecomastia

- mild LD

- increased risk for behavioral problems

Definition

 

Klinefelter syndrome (XXY)

Term

Which sex chromosome variation am I?

 

- normal physiological features & fertility

- mild LD
- possible early menopause

 

Definition

 

Triple X syndrome (XXX)

Term

Which sex chromosome variation am I?

 

- tall stature

-  normal physiologcial appearance & fertility

- mild LD

- increased risk for behavioral problems

Definition

 

XYY syndrome

 

- caused by non-disjunction of a sperm cell

Term

Erysipelas is caused by what infectious bacteria?

 

Definition

Erysipelas = red skin

 

caused by Strep. pyogenes

Term

Compare and contrast :

 

PGI2 (prostacyclin)

TXA2 (thromboxane)

Definition

-Both are eicosanoids, part of the COX pathway

- prostacyclin

-produced by endothelial cells 

 - vasodilation, decreased platelet aggregation

thromboxane

- produced by platelets

- vasoconstriction, increased platelet aggregation

Term

How are Langhans giant cells formed?

 

What type of cell injury are they found in?

Definition

- formed by the fusing together of epithelioid cells (activated macrophages)

 

- found in granulomatous inflammation

Term
What are vegetations and where are they located?
Definition

They are thrombi that develop on cardiac valves.

also known as verrucae

Term
Are lines of Zahn found on arterial or venous thrombi?
Definition

 

Arterial thrombi

 

- alternating layers of fibrin and darker red cells

Term
Where do most pulmonary embolisms originate from?
Definition
From deep leg veins, such as iliac, femoral or popliteal
Term
Most thromboemboli that end up in the brain or lower extremities originate from _______.
Definition
left ventricular mural thrombi
Term

 

What type of necrosis occurs in the brain in response to an infarct?

Definition

 

liquefactive necrosis

 

- heals by cavitation

Term
In most organs infarction leads to which type of necrosis?
Definition

coagulative necrosis

 

- brain is exception

Term
Oliguria is found in which stage of shock?
Definition

in the nonprogressive stage

 

- fluid conservation by the kidney to help maintain b.p.

Term
Aromatic amines, as are used in the leather and dye industries, are associated with what type of cancer?
Definition
bladder cancer
Term
Exposure to vinyl chlorides, as in the synthesis of polyvinyl resins, is associated with which type of cancer?
Definition
Hemangiosarcoma or angiosarcoma of the liver
Term
Azo dyes and aflatoxin are both associated with which type of cancer?
Definition

liver cancer

(hepatocarcinoma)

 

- both are indirect acting

Term
Epstein-Barr virus is associated with 3 types of cancer - what are they?
Definition

African Burkitt lymphoma

 

HIV-associated lymphoma

 

nasopharyngeal cancer

Term

 

Would expression of E-cadherin be downregulated or upregulated in cancer cells?

 

What about cathepsin D?

Definition

 E-cadherin responsible for intercellular attachment --> downregulated in cancer cells

 

cathepsin D a proteolytic enzyme needed for membrane degradation and metastasis

--> upregulated in cancer cells

Term

Monoclonal immunoglobin is used as a serologic assay for which type of cancer?

 

What about prostatic acid phosphatase?

Definition

monoclonal immunoglobin - multiple myeloma

 

prostatic acid phosphatase - metastatic prostate cancer

Term
A positive Prussian blue reaction stains for what intracellular accumulation?
Definition

 

hemosiderin

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