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Third Year Shelf > FM Extra > Flashcards

FM Extra Flashcards

1
Q

Murmur that decreases with valsalva

A

Aortic stenosis

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2
Q

Constrictive pericarditis ECG (4)

A

ECG low voltage
T wave flattening
Inverted V1/V2
Notched P

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3
Q

Hepatomegaly seen with what murmur

A

Tricuspid regurg

Tricuspid stenosis

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4
Q
  1. Troglitazone
  2. Metformin
  3. Glimepiride
  4. Acarbose
  5. Sitagliptin
  6. Exenatide
  7. Rosiglitazone
  8. Repaglinide
  9. Glycuride
  10. Miglitol
  11. Pioglitazone
  12. Nateglinide
  13. Glipizide
A
  1. Thiazolidinediones
  2. Biguanides
  3. Sulfonylureas
  4. alpha-glucosidase
  5. DDP-4 inhibitor
  6. GLP-1 analog
  7. Thiazolidinediones
  8. Meglitinides
  9. Sulfonylureas
  10. alpha-glucosidase
  11. Thiazolidinediones
  12. Meglitinides
  13. Sulfonylureas
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5
Q

Systolic ejection murmur

Crescendo descendo

A

Aortic stenosis

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6
Q

Seen w/ pericardial tamponade (5)

A

Beck’s triad
Hypotension
Muffled heart sounds
JVD

Narrow pulse pressure

Systolic BP drops by 10 w/ inspiration

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7
Q

Pregnancy screenings

A

28 weeks: gestational diabetes

36 weeks: Group B strep

[27-36 wks vaccination: Tdap]

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8
Q

Rupture of papillary muscles causes

A

Mitral regurg

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9
Q

Self mutilation

Intellectual disability

A

Lesch-Nyhan syndrome
- X linked

Defective purine salvage

HGPRT absent

HGPRT

  • Hyperuricemia
  • Gout
  • Pissed off
  • Retardation
  • Dystonia
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10
Q

Lesch-Nyhan syndrome see an increase in

A

Phosphoribosyl pyrophospahte amidotransferase (PRPP aminotransferase)

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11
Q

Coarse facial features
Clouded corneas
Restricted joint movements
High plasma level of lysosomal enzymes

Fatal childhood

  • names
  • defect
  • failure
  • what happens
A

I-cell disease
(inclusion cell disease, mucolipidosis type II)

Inherited lysosomal storage disorder

defect in N-acetylglucosaminyl-1-phosphotransferase

failure of golgi to phosphorylate mannose residues on glycoproteins (decrease mannose-6-phosphate)

Proteins secreted extracellularily rather than to lysosomes

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12
Q

Primary ciliary dyskinesia

A

Kartagener syndrome

Immotile cilia due to dynein arm defect

Recurrent pulmonary infection
Digital clubbing
Abnormal immotile spermatoozoa
Sinus inversus
dysfunctional fallopian tube cilia

Bronchiectasis
Recurrent sinusitis
Chronic ear infections

Increased risk of ectopic pregnancy
Conductive hearing loss

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13
Q

Hyperextensible skin
Hypermobile joints

  • assoc with
  • mutation
  • collagen
A

Ehlers-Danlos

Berry and aortic aneurysms

Classic type

  • Type V collagen
  • COL5A1, COL5A2

Vascular type
- deficent type III collagen

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14
Q

Tall with long limbs
Hypermobile joints
Long fingers and toes
subluxation of lens upward

  • inheritence
  • mutation
  • associated with
A

Marfan syndrome

AD

FBN1 gene chr 15

Defective fibrillin
- glycoprotein forms sheath around elastin

Cystic medial necrosis of aorta, Aortic incompetence
Disssecting aorta
Floppy mitral valve

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15
Q

Eats everything
Obese
Intellectual disability
Hypotonia

Other key symptom

A

Prader-Willi

Maternal imprinting

  • Mom gene= silent
  • Dad gene= mutated

Hypogonadisum

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16
Q

Inappropriate laughter
Intellectual disability

Other key symptom

A

AngelMan syndrome

Paternal imprint

  • Dad gene= silent
  • Mom= mutated

Seizues
Ataxis

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17
Q

Large Jaw
Macroorchidism
Long face
Large ears

  • inheritence
  • mutation
  • causes
  • assoc with
A

Fragile X syndrome

X linked dominant

Trinucleotide repeat in FMR1 (CGG)

–> hypermethylation

Autism
Mitral valve prolapse

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18
Q

Edwards syndrome trisomy 18

  • signs
  • labs
A

Rocker bottom feet
Overlapping fingers
Low set Ears
Micrognathia

Decreased

  • alpha feto protein
  • hCG
  • estriol
  • inhibin (normal)
19
Q

Patau syndrome trisomy 13

  • signs
  • labs
A 
Rocker bottom feet
Microcephaly
cleft lip/palate
holoprosencephaly
polydactyly

decreased beta hCG
Decreased PAPP-A

20
Q 
Musty odor
Seizuers
Intellectual disability
Fair skin
eczema
  • deficency
  • inheritence
A

PKU

Phenylalanine hydroxylase
Tetrahydrobiopterin (BH4)

AR

21
Q

Bluish black ear cartilage
Sclerae
urine turns black

A

Alkaptonuria

AR

deficiency homogentisate oxidase

22
Q

Tall person
Sublux lens down
osteoporosis
kyphosis

  • inheritence
  • defect
  • tx
A

Homocystinuria

AR

Cystathionine synthase def
- Tx dec methionine, increase cysteine, increase B6 B12 folate

Decreased affinity for B 6
- Tx increase B6, cysteine

Methionine synthase def
- Tx increase methionine

23
Q 
Hepatomegaly
Gout
Fasting hypoglycemia
Seizure
Lactic acidosis
A

Von Gierke

deficiency: Glucose-6-phosphatase

24
Q

Cardiomegaly
severe muscle weakness
hypotonia
exercise intolerance

A

Pompe disease

deficiency alpha 1,4 glucosidase in lysosome

25
Q

Hypoglycemia
Hepatomegaly
Normal lactate levels

A

Cori disease

deficiency debranching enzyme alpha-1,6, glucosidase

26
Q

Muscle cramps

Red urine w/ exercise

A

McArdle disease

GLycogen phosphorylase in skeletal muscle

27
Q

Cherry red spot
Lysosomes onion skin
No hepatosplenomegaly
Progressive neurodegeneration

A

TaySachs

deficient: Hexosaminidase A
accumulate: GM2 ganglioside

AR

tAy-saX
heXosaminidase A

” a Gang of 6 small Jews”

28
Q

Painless papules on lower abdomen (small red/blue marks)

peripheral neuropathy

glomerulopathy (renal failure)

Decreased sweat ( hypohidrosis)

A

Fabry disease

XR

Deficient: alpha- galactosidase

Accumulation: ceramide trihexoside; globotriaosylceramide

“my fabrite activity is ceramics class we made a galaXy”

29
Q 
A 3-year-old girl is brought to her pediatrician because of a progressive loss of motor function and a decline in her cognitive abilities. On physical examination, it is noted that the patient has decreased deep tendon reflexes, truncal ataxia, and a decreased attention span in comparison to the child’s last visit 6 months ago. The physician knows that her pathology is due to an abnormal accumulation of cerebroside
sulfate in her brain, peripheral nerves, kidney, and liver. A defi ciency of which of the following
enzymes leads to this condition?
(A) α-Galactosidase A
(B) β-Galactosidase
(C) Arylsulfatase A
(D) Hexosaminidase A
(E) Sphingomyelinase
A

(C) Arylsulfatase A

Metachromatic leukodystrophy

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate

AR

30
Q

Metachromatic leukodystrophy

A

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate AR

31
Q

Krabbe diease

A 
Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delays
Optic atrophy
GLobid cells

Deficiency: galactocerebrosidase
Accumulated: galactocerebroside psychosine

AR

“This Krabbe is galaxy headed”
This krab is out of this world”
big glob of krab= globoid

32
Q

Numbness and tingling in extremities
Blurriness in eyes
Developmental delays

A

Krabbe

Deficiency: galactocerebrosidase

Accumulated: galactocerebroside psychosine

AR

33
Q 
Hepatomegaly
Pancytopenia
Osteoporosis
Avascular necrois of femur
Lipid laden marcophages - crumped tissue paper

Cherry red spot

A

Gaucher disease

Def: glucocerebrosidase

Accum: glucocerebroside

AR

” oh my gauch hes such a bro”
crying voice= tissue paper cytoplasm

34
Q

Progressive neurodegeneration
Hepatosplenomegaly
Lipid-laden macrophages
cherry red spot

A

Niemann-Pick disease

Def: sphingomyelinase

Acc: sphingomyelin

AR

“Pick your BIG nose with your sphinger”

35
Q

Hepatosplenomegaly
Corneal clouding
Gargoylism
Developmental delay

A

Hurler syndrome

Def: alpha-L- iduronidase

Accum: heparan sulfate, dermatan sulfate
Glycosaminoglycans (GAGs)

hurLer= L-iduronidase

36
Q 
2 y.o
Progressive deterioration 
Coarse facial features 
Hepatosplenomegaly
Intellectual disability 
Poor growth (dwarfism) 
Aggressive behavior
A

Hunter syndrome

Deficient: iduronate sulfatase

Accumulation: heparan sulfate and dermatan sulfate

XR

“X marks the spot”
“Id hunt it my sulf, dermined
Cant hunt w/ corneal clouding

37
Q
  1. Anti-ACh receptor
  2. Anti-desmoglein
  3. Anti-hemidesmosome
  4. anti-helicase
  5. antimicrosomal
  6. antimitochondrial
A
  1. Myasthenia gravis
  2. Pemphigus vulgaris
  3. Bullous pemphigous
  4. Polymyositis, dermatomyositis
  5. Hashimoto
  6. Primary biliary cirrhosis
38
Q

Asbestos affects what part of lungs

A

Lower lobes

39
Q

Silica affects what part of lungs

A

Upper lobes

40
Q

Coal affects what part of lungs

A

Upper lobes

41
Q

Ivory white calcified plaques

what type of work

A

Asbestosis

Shipbuilding
Roofing
plumbing

42
Q

Golden brown dumbbells on sputum sample

A

Asbestosis

43
Q

Fibrosis

Eggshell calcifications of hilar LN on CXR

A

Silicosis

Third Year Shelf (7 decks)

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