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132 Cards in this Set

  • Front
  • Back
Phenotypic variations between monozygotic twins are due to .....
Epigenetics
derived from parents, transmitted in germ-line
Hereditary disorders
Select the incorrect disease/mutation match.
A. Sickle cell/Missense
B. β thalassemia/Nonsense
C. Tay Sachs/Frame shift
D. Fragile X/trinucleotide repeat
E. Huntington's/Deletion
E. Huntington's/Deletion

Huntington's is a trinucleotide repeat mutation
Which of the following is NOT an example of pleiotropy?
A. Sickle cell
B. Ehlers Danlos
C. Marfan’s
D. Neurofibromatosis
B. Ehlers Danlos
Which of the following diseases is most likely to appear in females?
A. Fabry’s
B. Hunter’s
C. Hemophilia A
D. Vitamin D resistant Rickets
E. Fragile X Synd
D. Vitamin D resistant Rickets

All are X-linked, but Vitamin D resistant Ricketts is the only one that is x-linked dominant, and therefore, the one that is most likely to appear in females.
X-linked recessive diseases rarely affect females.
When a patient appears with Arachnodactyly, disproportionately long legs, a prominent brow
and Pectus excavatum, what gene is most likley affected and what life-threatening complications are they at risk for?
FIBN gene - makes fibrillin
the lack of fibrillin puts Marfan's patients at risk for Mitral regurgitation, Aortic dissection, and Berry aneurysm in Circle of willis
If a baby appeared with mental defects and a cherry red spot on retina, what could you check to differentiate between Tay Sachs and Neimann Pick disease?
Hapatosplenomegaly is seen in Neiman Pick but not in Tay Sachs.
parents probably wont appreciate your brilliant deductive reasoning however, since both diseases leave babies mentally delayed and with extremely short life expectancies (2 to 3 years)
Choose the INcorrect disease/defect from the list below
A.Marfan/fibrillin
B. Tay Sachs/hexominodase
C. Huntingtons/CAG
D. Neiman Pick/ sphingomyelinase
E. Vascular Ehlers Danlos/Type II collagen
E. Vascular Ehlers Danlos/Type II collagen

Vascular ED is the most deadly ED to get and has a defect is Type III Collagen
Defective fibrillin?
Marfan Syndrome
Deficient in Hexosaminidase A
Tay Sachs
deficient Sphingomyelinase
Neiman Pick
Glucocerebrosidase deficiency
Gaucher
Deficiency of alpha-galactosidase
Fabry's
Deficient glucose-6-phosphatase
Von Gierke
Muscle phosphorylase deficiency
McCardle
Deficiency in acid maltase
Pompe
Deficiency in homogentisic oxidase
alkaptonuria
Del 22q11 =
digeorge, velocardiofacial
Del 15 (q11q13) =
Prader-Willi synd
Del 13q- =
Retinoblastoma
Del 5p- =
Cri du chat
Del 11p- =
WAGR (familial Wilm’s tumor)
barr body in a male?
Klinefelter (XXY)
male seven inches taller than expected height may or may not have history of bad acne
47XYY = “super male” = tall with acne
lifethreatening aspect of Turner Syndrome?
Congenital heart dz  preductal coarctation of aorta, bicuspid aortic valve, and berry aneurysm
what is it called when a dz gets worse with each generation
anticipation
young person comes in complaining of osteoparthritis. You collect a urine sample, but accidentally leave it sitting overnight. When you come back in the next day it has turned black. What does your patient have?
alkaptonuria
Patient with bilateral acoustic neuromas (CN VIII) and No lisch nodules
NF2
most common cause of metal retardation?
Downs
second most common cause of mental retardation?
Fragile X
all are features of Fragile X, except...
A. Micrognathia
B. Parkinson’s-like tremor
C. Mental retardation
D. Macro-orchidism
E. Large, everted ears
A. Micrognathia

Patient would have macrognathia (large jaw)
Pedigree = all offspring of an affected mother have the dz
Mitochondrial inheritence
patient with a cleft palate, abnormal facies, thymic aplasia, cardiac defects and hypocalcemia, most likely has...
A. microdeletion of long arm of chromosome 7
B. microdeletion of short arm of chromosome 5
C. a robertsonian translocation
D. aberrant development of 3rd and 4th branchial pouches
E. almost a 100% chance of acquiring Alzheimers by age 40
D. aberrant development of 3rd and 4th branchial pouches

CATCH 22 is pneumonic for DiGeorge syndrome, which is caused by aberrant development of 3rd and 4th branchial pouches.
tyrosinase deficiency
albinism
xlinked lysomsomal storage disease?
Fabry's
Most common lysosomal storage disease?
Gaucher's
accumulated ceramide trihexoside
Fabry's disease
accumulated glucocerebroside
Gaucher's disease
accumulated sphingomylelin
NP disease
accumulated GM2 ganglioside
Tay Sachs disease
deficient a-L-iduronidase
Hurler's syndrome
deficient iduronate sulfatase
Hunter's syndrome
x-linked mucopolysacharridase
Hunter's syndrome
which genetic pathologies below does NOT feature congenital cardiac defects?
A. Down syndrome
B. Pompe's disease
C. Turner syndrome
D. Marfan's syndrome
E. 22q11 syndromes
B. Pompe's disease
While is does affect hear muscle, it is NOT a congenital defect problem. IT's a problem with glycogen storage
which pseudohermaphroditism is x-linked recessive?
male pseudohermaphroditism caused by testicular feminization
most common primary tumor of the orbit?
hemangioma
most common malignancy of the eyelid
basal cell carcinoma
second most common malignancy of the eyelid?
sebacious carcinoma
sebacceous carcinoma metastizes first to....
parotid and submandibular glands
indolent, invasive form is shallow and raarely metastizes
squamous cell carcinoma
benign adnexal tumor invovling the lower eyelid
syringoma
diffuse intra-epithelial, "paget like" growth, which thickens the eyelid
sebacceous carcinoma
yellowish, raised lesion of the conjunctiva, caused by actinic/solar damage. does not impair vision
penguecula
wing-like proliferation of fibrovascular tissue from inner canthus onto cornea. Impairs vision. related to sun exposure
pterygium
most common cause of corneal ulcer
herpetic infections which cause dendritic ulcer
inflammation of cornea, may lead to dissolution of stroma, caused by syphillus
keratits
branched ulcer of the cornea seen under flourescence microscopy
dendritic ulcer.
caused by herpes
opaque, horizontal bands across superficiaial central cornea
band keratopathy
what causes calcific band keratopathy
calcium deposits in bowman's layer due to hypercalcemia and juvenile rheumatoid arthritis
bilateral thinning of the cornea?
associations?
Keratoconus
associated with downs and marfans
most common association of cataracts
aging
difference between open and closed angle glaucoma?
access to trabecular meshwork and canal of schlemm
mutant myocillin causes
open angle glaucoma
neovascular glaucoma causes
secondary closed angle glaucoma
granulomatous eveitis and calcific band keratopathy suggest...
sarcoidosis
p[eople with penetration injuries to one eye are at risk for ________ due to _______
sympathetic opthalmitis due to immune response to exposed pigment antigen
signs of sympathetic opthalmitits
symptoms 2 weeks after initial injury
loss of accomodation
blurred vision
photophobia
iris melanoma and ciliary body melonoma occur in the ...
uvea
most common metastisis of malignant melanoma of the uvea?
liver
Which statement below concerning thyroid nodules is false?
A. Solitary nodules are more likely to be neoplastic than multiple nodules
B. Nodules in younger patients are more likely to be neoplastic than those in older patients
C. nodules in males are more likely to be cancer
D. radiation treatment increases ones chances of thyroid malignancy
E. Nodules that take up radioactive iodine are more likely to be malignant
E. Nodules that take up radioactive iodine are more likely to be malignant

Benign nodules are "hot nodules" and take up more radioactive iodine than malignant nodules
are thyroid adenomas precancerous?
almost never
where are thyroid adenomas derived from?
follicular epithelium
deadliest thyroid tumor?
anaplastic carcinoma
childhood thyroid tumor?
familial medullary carcinoma
what to medullary carcinomas secrete?
calcitonin
painful cause of thyrotoxicosis NOT caused by hyperthyroidism?
subacute granulomatous thyroiditis
painless cause of thyrotoxicosis NOT caused by hyperthyroidism?
subacute lymphocytic thyroiditis
toxic goiter
exopthalmos
pretibial myxedema
peaks at 20-40

what is it?
what genes are invovled?
graves disease

HLA-DR3 and CTLA-4
universally present and specific for Graves disease?
thyroid stimulating immunoglobulin

graves is an autoimmune disease. actions of the antibodies are responsibile for the disease symptoms
"scallopped colloid" on histo slide
Grave's Disease
congenital hypothyroidism
cretinism
causes of cretinism
iodine deficiency
enzyme defiiciency for syntesis of T4, T3
maldevelopment of thyroid gland
labs of myxedema
very elevated TSH
Low T4
elevated serum cholesterol and creatin kinase (BOOM)
anemia
treatment of myxedema
levothyroxine
what causes the weight gain in myxedema(hypothyroidism)
accumulation of mucopolysacharride in tissues
what happens to thyroid during course of hashimotos?
transient hyperthyroid
followed by complete autoimmune destruction of thyroid
what cancer risk is elevated with hashimotos?
B-cell MALT lymphoma
TPO antibody positive is specific for
hashimotos
Hurthle cells =
Hashimotos
pain in the nexk that is worse with swallowing and radiates to jaw, throat, ears
fever and myalgias
Think...
subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis
thyroid histo section shows multinucleated giant cells
subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis
enlarged, nontender thyroid
subacute lymphocytic thyroiditis
fibrosis of thyroid extending into surrounding tissues
Reidel thyroiditis
what cells in anterior pituitary secrete GH
somatotrophs
which anterior pituitary cells pump out ACTH?
corticotrophs
anterior pituitary secretes...
FLAT PiG M

FSH
LH
ACTH
TSH
Prolactin
GH
MSH
where are posterior pituitary hormones made?
Hypothalamus
what are the posterior pituitary hormones?
ADH (vasopressin)
oxytocin
most common cause of pituitary hormone excess?
pituitary adenoma
genetics and most common hormones produced by most common type of familial pituitary adenoma
MEN1 - multiple endocrine neoplasia

GH adenoma
Prolactin adenoma
ACTH adenoma
bilateral hemianopsia (loss of temporal visual fields)
Macroadenoma pushing on optic chiasm
most common pituitary neoplasm
prolactinoma
secon most common pituitary tumor
Somatotroph adenoma
corticotroph adenoma causes what disease?
Cushings Disease
hormones of corticotroph adenomas
elevated ACTH
Elevated MSH
patient presents with "worst headache of my life" shows signs of diplopia, labs show hypopituitarism
Patient has pituitary apoplexy
a sudden hemorage into the gland and often occurs in an adenoma
what causes Sheehan syndrome?
postpartum panhypopituitarism
infarct to anterior pituitary during or following delivery
infarct of posterior pituitary causes
diabetes insipidus
Hurthle cells =
Hashimotos
pain in the nexk that is worse with swallowing and radiates to jaw, throat, ears
fever and myalgias
Think...
subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis
thyroid histo section shows multinucleated giant cells
subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis
enlarged, nontender thyroid
subacute lymphocytic thyroiditis
fibrosis of thyroid extending into surrounding tissues
Reidel thyroiditis
what cells in anterior pituitary secrete GH
somatotrophs
which anterior pituitary cells pump out ACTH?
corticotrophs
anterior pituitary secretes...
FLAT PiG M

FSH
LH
ACTH
TSH
Prolactin
GH
MSH
where are posterior pituitary hormones made?
Hypothalamus
what are the posterior pituitary hormones?
ADH (vasopressin)
oxytocin
suprasellar mass on hypothalamus with ring calcification
craniopharyngioma
causes panhypopituitarism in young (5-15) and old (>50)
deficienct GH in kids
pituitary dwarfism
deficient GH in adults
insulin sensitivity, hypoglycemia, descreased strength
deficient gonadotropins in kids?
adults?
kids: retarded sexual maturation
adults: loss of libido, pubic and axillary hair, impotence/infertility
polyuria, polydipsia, intense thirst, and unable to cencentrate urine
Central diabetes insipidus
withhold water to measure urine serum osmolality. desmopressin defferentiates between central and nephrogenic
calvarial defects
exopthalmos
DI
Hand Schuller Christian Disease
DR HOF has Cushings Syndrome
Decreased libido
Rounded face
Hypertension
Obesity
Facial plethora
increased cortisol. elevated ACTH, not suppressed with low dose dexamethasone, but suppressed with high dose Dex =
pituitary Cushings disease
elevated ACTH completely insensitive to dexamethosone
Ectopic ACTH
low ACTH insensitive to dexamoethosone
Adrenal tumor
solitary, aldosterone secreting adenoma
Conn's syndrome
21 hydroxylase deficiency
AR
causes congenital adrenal hyperplasia
weakness, fatigue, anorexia, hyperpigmentation of skin, weight loss, diahrrea, hyperkalemia, hypotension...
Addison's disease
primary chronic adrenocortical insufficiency
low cortisol
low androgen
normal aldosterone
NO hperpigmentation
se condary adrenocortical insufficiency caused by hypothalamus or pituitary