Spring Path 2

Front 1

Phenotypic variations between monozygotic twins are due to .....

Back 1

Epigenetics

Front 2

derived from parents, transmitted in germ-line

Back 2

Hereditary disorders

Front 3

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

Back 3

E. Huntington's/Deletion

Huntington's is a trinucleotide repeat mutation

Front 4

Which of the following is NOT an example of pleiotropy?
A. Sickle cell
B. Ehlers Danlos
C. Marfan’s
D. Neurofibromatosis

Back 4

B. Ehlers Danlos

Front 5

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

Back 5

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.

Front 6

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?

Back 6

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

Front 7

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?

Back 7

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)

Front 8

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

Back 8

E. Vascular Ehlers Danlos/Type II collagen

Vascular ED is the most deadly ED to get and has a defect is Type III Collagen

Front 9

Defective fibrillin?

Back 9

Marfan Syndrome

Front 10

Deficient in Hexosaminidase A

Back 10

Tay Sachs

Front 11

deficient Sphingomyelinase

Back 11

Neiman Pick

Front 12

Glucocerebrosidase deficiency

Back 12

Gaucher

Front 13

Deficiency of alpha-galactosidase

Back 13

Fabry's

Front 14

Deficient glucose-6-phosphatase

Back 14

Von Gierke

Front 15

Muscle phosphorylase deficiency

Back 15

McCardle

Front 16

Deficiency in acid maltase

Back 16

Pompe

Front 17

Deficiency in homogentisic oxidase

Back 17

alkaptonuria

Front 18

Del 22q11 =

Back 18

digeorge, velocardiofacial

Front 19

Del 15 (q11q13) =

Back 19

Prader-Willi synd

Front 20

Del 13q- =

Back 20

Retinoblastoma

Front 21

Del 5p- =

Back 21

Cri du chat

Front 22

Del 11p- =

Back 22

WAGR (familial Wilm’s tumor)

Front 23

barr body in a male?

Back 23

Klinefelter (XXY)

Front 24

male seven inches taller than expected height may or may not have history of bad acne

Back 24

47XYY = “super male” = tall with acne

Front 25

lifethreatening aspect of Turner Syndrome?

Back 25

Congenital heart dz  preductal coarctation of aorta, bicuspid aortic valve, and berry aneurysm

Front 26

what is it called when a dz gets worse with each generation

Back 26

anticipation

Front 27

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?

Back 27

alkaptonuria

Front 28

Patient with bilateral acoustic neuromas (CN VIII) and No lisch nodules

Back 28

NF2

Front 29

most common cause of metal retardation?

Back 29

Downs

Front 30

second most common cause of mental retardation?

Back 30

Fragile X

Front 31

all are features of Fragile X, except...
A. Micrognathia
B. Parkinson’s-like tremor
C. Mental retardation
D. Macro-orchidism
E. Large, everted ears

Back 31

A. Micrognathia

Patient would have macrognathia (large jaw)

Front 32

Pedigree = all offspring of an affected mother have the dz

Back 32

Mitochondrial inheritence

Front 33

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

Back 33

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.

Front 34

tyrosinase deficiency

Back 34

albinism

Front 35

xlinked lysomsomal storage disease?

Back 35

Fabry's

Front 36

Most common lysosomal storage disease?

Back 36

Gaucher's

Front 37

accumulated ceramide trihexoside

Back 37

Fabry's disease

Front 38

accumulated glucocerebroside

Back 38

Gaucher's disease

Front 39

accumulated sphingomylelin

Back 39

NP disease

Front 40

accumulated GM2 ganglioside

Back 40

Tay Sachs disease

Front 41

deficient a-L-iduronidase

Back 41

Hurler's syndrome

Front 42

deficient iduronate sulfatase

Back 42

Hunter's syndrome

Front 43

x-linked mucopolysacharridase

Back 43

Hunter's syndrome

Front 44

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

Back 44

B. Pompe's disease
While is does affect hear muscle, it is NOT a congenital defect problem. IT's a problem with glycogen storage

Front 45

which pseudohermaphroditism is x-linked recessive?

Back 45

male pseudohermaphroditism caused by testicular feminization

Front 46

most common primary tumor of the orbit?

Back 46

hemangioma

Front 47

most common malignancy of the eyelid

Back 47

basal cell carcinoma

Front 48

second most common malignancy of the eyelid?

Back 48

sebacious carcinoma

Front 49

sebacceous carcinoma metastizes first to....

Back 49

parotid and submandibular glands

Front 50

indolent, invasive form is shallow and raarely metastizes

Back 50

squamous cell carcinoma

Front 51

benign adnexal tumor invovling the lower eyelid

Back 51

syringoma

Front 52

diffuse intra-epithelial, "paget like" growth, which thickens the eyelid

Back 52

sebacceous carcinoma

Front 53

yellowish, raised lesion of the conjunctiva, caused by actinic/solar damage. does not impair vision

Back 53

penguecula

Front 54

wing-like proliferation of fibrovascular tissue from inner canthus onto cornea. Impairs vision. related to sun exposure

Back 54

pterygium

Front 55

most common cause of corneal ulcer

Back 55

herpetic infections which cause dendritic ulcer

Front 56

inflammation of cornea, may lead to dissolution of stroma, caused by syphillus

Back 56

keratits

Front 57

branched ulcer of the cornea seen under flourescence microscopy

Back 57

dendritic ulcer.
caused by herpes

Front 58

opaque, horizontal bands across superficiaial central cornea

Back 58

band keratopathy

Front 59

what causes calcific band keratopathy

Back 59

calcium deposits in bowman's layer due to hypercalcemia and juvenile rheumatoid arthritis

Front 60

bilateral thinning of the cornea?
associations?

Back 60

Keratoconus
associated with downs and marfans

Front 61

most common association of cataracts

Back 61

aging

Front 62

difference between open and closed angle glaucoma?

Back 62

access to trabecular meshwork and canal of schlemm

Front 63

mutant myocillin causes

Back 63

open angle glaucoma

Front 64

neovascular glaucoma causes

Back 64

secondary closed angle glaucoma

Front 65

granulomatous eveitis and calcific band keratopathy suggest...

Back 65

sarcoidosis

Front 66

p[eople with penetration injuries to one eye are at risk for ________ due to _______

Back 66

sympathetic opthalmitis due to immune response to exposed pigment antigen

Front 67

signs of sympathetic opthalmitits

Back 67

symptoms 2 weeks after initial injury
loss of accomodation
blurred vision
photophobia

Front 68

iris melanoma and ciliary body melonoma occur in the ...

Back 68

uvea

Front 69

most common metastisis of malignant melanoma of the uvea?

Back 69

liver

Front 70

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

Back 70

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

Front 71

are thyroid adenomas precancerous?

Back 71

almost never

Front 72

where are thyroid adenomas derived from?

Back 72

follicular epithelium

Front 73

deadliest thyroid tumor?

Back 73

anaplastic carcinoma

Front 74

childhood thyroid tumor?

Back 74

familial medullary carcinoma

Front 75

what to medullary carcinomas secrete?

Back 75

calcitonin

Front 76

painful cause of thyrotoxicosis NOT caused by hyperthyroidism?

Back 76

subacute granulomatous thyroiditis

Front 77

painless cause of thyrotoxicosis NOT caused by hyperthyroidism?

Back 77

subacute lymphocytic thyroiditis

Front 78

toxic goiter
exopthalmos
pretibial myxedema
peaks at 20-40

what is it?
what genes are invovled?

Back 78

graves disease

HLA-DR3 and CTLA-4

Front 79

universally present and specific for Graves disease?

Back 79

thyroid stimulating immunoglobulin

graves is an autoimmune disease. actions of the antibodies are responsibile for the disease symptoms

Front 80

"scallopped colloid" on histo slide

Back 80

Grave's Disease

Front 81

congenital hypothyroidism

Back 81

cretinism

Front 82

causes of cretinism

Back 82

iodine deficiency
enzyme defiiciency for syntesis of T4, T3
maldevelopment of thyroid gland

Front 83

labs of myxedema

Back 83

very elevated TSH
Low T4
elevated serum cholesterol and creatin kinase (BOOM)
anemia

Front 84

treatment of myxedema

Back 84

levothyroxine

Front 85

what causes the weight gain in myxedema(hypothyroidism)

Back 85

accumulation of mucopolysacharride in tissues

Front 86

what happens to thyroid during course of hashimotos?

Back 86

transient hyperthyroid
followed by complete autoimmune destruction of thyroid

Front 87

what cancer risk is elevated with hashimotos?

Back 87

B-cell MALT lymphoma

Front 88

TPO antibody positive is specific for

Back 88

hashimotos

Front 89

Hurthle cells =

Back 89

Hashimotos

Front 90

pain in the nexk that is worse with swallowing and radiates to jaw, throat, ears
fever and myalgias
Think...

Back 90

subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis

Front 91

thyroid histo section shows multinucleated giant cells

Back 91

subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis

Front 92

enlarged, nontender thyroid

Back 92

subacute lymphocytic thyroiditis

Front 93

fibrosis of thyroid extending into surrounding tissues

Back 93

Reidel thyroiditis

Front 94

what cells in anterior pituitary secrete GH

Back 94

somatotrophs

Front 95

which anterior pituitary cells pump out ACTH?

Back 95

corticotrophs

Front 96

anterior pituitary secretes...

Back 96

FLAT PiG M

FSH
LH
ACTH
TSH
Prolactin
GH
MSH

Front 97

where are posterior pituitary hormones made?

Back 97

Hypothalamus

Front 98

what are the posterior pituitary hormones?

Back 98

ADH (vasopressin)
oxytocin

Front 99

most common cause of pituitary hormone excess?

Back 99

pituitary adenoma

Front 100

genetics and most common hormones produced by most common type of familial pituitary adenoma

Back 100

MEN1 - multiple endocrine neoplasia

GH adenoma
Prolactin adenoma
ACTH adenoma

Front 101

bilateral hemianopsia (loss of temporal visual fields)

Back 101

Macroadenoma pushing on optic chiasm

Front 102

most common pituitary neoplasm

Back 102

prolactinoma

Front 103

secon most common pituitary tumor

Back 103

Somatotroph adenoma

Front 104

corticotroph adenoma causes what disease?

Back 104

Cushings Disease

Front 105

hormones of corticotroph adenomas

Back 105

elevated ACTH
Elevated MSH

Front 106

patient presents with "worst headache of my life" shows signs of diplopia, labs show hypopituitarism

Back 106

Patient has pituitary apoplexy
a sudden hemorage into the gland and often occurs in an adenoma

Front 107

what causes Sheehan syndrome?

Back 107

postpartum panhypopituitarism
infarct to anterior pituitary during or following delivery

Front 108

infarct of posterior pituitary causes

Back 108

diabetes insipidus

Front 109

Hurthle cells =

Back 109

Hashimotos

Front 110

pain in the nexk that is worse with swallowing and radiates to jaw, throat, ears
fever and myalgias
Think...

Back 110

subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis

Front 111

thyroid histo section shows multinucleated giant cells

Back 111

subacute granulomatous thyroiditis, a.k.a. DeQuervain thyroiditis

Front 112

enlarged, nontender thyroid

Back 112

subacute lymphocytic thyroiditis

Front 113

fibrosis of thyroid extending into surrounding tissues

Back 113

Reidel thyroiditis

Front 114

what cells in anterior pituitary secrete GH

Back 114

somatotrophs

Front 115

which anterior pituitary cells pump out ACTH?

Back 115

corticotrophs

Front 116

anterior pituitary secretes...

Back 116

FLAT PiG M

FSH
LH
ACTH
TSH
Prolactin
GH
MSH

Front 117

where are posterior pituitary hormones made?

Back 117

Hypothalamus

Front 118

what are the posterior pituitary hormones?

Back 118

ADH (vasopressin)
oxytocin

Front 119

suprasellar mass on hypothalamus with ring calcification

Back 119

craniopharyngioma
causes panhypopituitarism in young (5-15) and old (>50)

Front 120

deficienct GH in kids

Back 120

pituitary dwarfism

Front 121

deficient GH in adults

Back 121

insulin sensitivity, hypoglycemia, descreased strength

Front 122

deficient gonadotropins in kids?
adults?

Back 122

kids: retarded sexual maturation
adults: loss of libido, pubic and axillary hair, impotence/infertility

Front 123

polyuria, polydipsia, intense thirst, and unable to cencentrate urine

Back 123

Central diabetes insipidus
withhold water to measure urine serum osmolality. desmopressin defferentiates between central and nephrogenic

Front 124

calvarial defects
exopthalmos
DI

Back 124

Hand Schuller Christian Disease

Front 125

DR HOF has Cushings Syndrome

Back 125

Decreased libido
Rounded face
Hypertension
Obesity
Facial plethora

Front 126

increased cortisol. elevated ACTH, not suppressed with low dose dexamethasone, but suppressed with high dose Dex =

Back 126

pituitary Cushings disease

Front 127

elevated ACTH completely insensitive to dexamethosone

Back 127

Ectopic ACTH

Front 128

low ACTH insensitive to dexamoethosone

Back 128

Adrenal tumor

Front 129

solitary, aldosterone secreting adenoma

Back 129

Conn's syndrome

Front 130

21 hydroxylase deficiency

Back 130

AR
causes congenital adrenal hyperplasia

Front 131

weakness, fatigue, anorexia, hyperpigmentation of skin, weight loss, diahrrea, hyperkalemia, hypotension...

Back 131

Addison's disease
primary chronic adrenocortical insufficiency

Front 132

low cortisol
low androgen
normal aldosterone
NO hperpigmentation

Back 132

se condary adrenocortical insufficiency caused by hypothalamus or pituitary