FM Extra Flashcards
Murmur that decreases with valsalva
Aortic stenosis
Constrictive pericarditis ECG (4)
ECG low voltage
T wave flattening
Inverted V1/V2
Notched P
Hepatomegaly seen with what murmur
Tricuspid regurg
Tricuspid stenosis
- Troglitazone
- Metformin
- Glimepiride
- Acarbose
- Sitagliptin
- Exenatide
- Rosiglitazone
- Repaglinide
- Glycuride
- Miglitol
- Pioglitazone
- Nateglinide
- Glipizide
- Thiazolidinediones
- Biguanides
- Sulfonylureas
- alpha-glucosidase
- DDP-4 inhibitor
- GLP-1 analog
- Thiazolidinediones
- Meglitinides
- Sulfonylureas
- alpha-glucosidase
- Thiazolidinediones
- Meglitinides
- Sulfonylureas
Systolic ejection murmur
Crescendo descendo
Aortic stenosis
Seen w/ pericardial tamponade (5)
Beck’s triad
Hypotension
Muffled heart sounds
JVD
Narrow pulse pressure
Systolic BP drops by 10 w/ inspiration
Pregnancy screenings
28 weeks: gestational diabetes
36 weeks: Group B strep
[27-36 wks vaccination: Tdap]
Rupture of papillary muscles causes
Mitral regurg
Self mutilation
Intellectual disability
Lesch-Nyhan syndrome
- X linked
Defective purine salvage
HGPRT absent
HGPRT
- Hyperuricemia
- Gout
- Pissed off
- Retardation
- Dystonia
Lesch-Nyhan syndrome see an increase in
Phosphoribosyl pyrophospahte amidotransferase (PRPP aminotransferase)
Coarse facial features
Clouded corneas
Restricted joint movements
High plasma level of lysosomal enzymes
Fatal childhood
- names
- defect
- failure
- what happens
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
Primary ciliary dyskinesia
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
Hyperextensible skin
Hypermobile joints
- assoc with
- mutation
- collagen
Ehlers-Danlos
Berry and aortic aneurysms
Classic type
- Type V collagen
- COL5A1, COL5A2
Vascular type
- deficent type III collagen
Tall with long limbs
Hypermobile joints
Long fingers and toes
subluxation of lens upward
- inheritence
- mutation
- associated with
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
Eats everything
Obese
Intellectual disability
Hypotonia
Other key symptom
Prader-Willi
Maternal imprinting
- Mom gene= silent
- Dad gene= mutated
Hypogonadisum
Inappropriate laughter
Intellectual disability
Other key symptom
AngelMan syndrome
Paternal imprint
- Dad gene= silent
- Mom= mutated
Seizues
Ataxis
Large Jaw
Macroorchidism
Long face
Large ears
- inheritence
- mutation
- causes
- assoc with
Fragile X syndrome
X linked dominant
Trinucleotide repeat in FMR1 (CGG)
–> hypermethylation
Autism
Mitral valve prolapse
Edwards syndrome trisomy 18
- signs
- labs
Rocker bottom feet
Overlapping fingers
Low set Ears
Micrognathia
Decreased
- alpha feto protein
- hCG
- estriol
- inhibin (normal)
Patau syndrome trisomy 13
- signs
- labs
Rocker bottom feet Microcephaly cleft lip/palate holoprosencephaly polydactyly
decreased beta hCG
Decreased PAPP-A
Musty odor Seizuers Intellectual disability Fair skin eczema
- deficency
- inheritence
PKU
Phenylalanine hydroxylase
Tetrahydrobiopterin (BH4)
AR
Bluish black ear cartilage
Sclerae
urine turns black
Alkaptonuria
AR
deficiency homogentisate oxidase
Tall person
Sublux lens down
osteoporosis
kyphosis
- inheritence
- defect
- tx
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
Hepatomegaly Gout Fasting hypoglycemia Seizure Lactic acidosis
Von Gierke
deficiency: Glucose-6-phosphatase
Cardiomegaly
severe muscle weakness
hypotonia
exercise intolerance
Pompe disease
deficiency alpha 1,4 glucosidase in lysosome
Hypoglycemia
Hepatomegaly
Normal lactate levels
Cori disease
deficiency debranching enzyme alpha-1,6, glucosidase
Muscle cramps
Red urine w/ exercise
McArdle disease
GLycogen phosphorylase in skeletal muscle
Cherry red spot
Lysosomes onion skin
No hepatosplenomegaly
Progressive neurodegeneration
TaySachs
deficient: Hexosaminidase A
accumulate: GM2 ganglioside
AR
tAy-saX
heXosaminidase A
” a Gang of 6 small Jews”
Painless papules on lower abdomen (small red/blue marks)
peripheral neuropathy
glomerulopathy (renal failure)
Decreased sweat ( hypohidrosis)
Fabry disease
XR
Deficient: alpha- galactosidase
Accumulation: ceramide trihexoside; globotriaosylceramide
“my fabrite activity is ceramics class we made a galaXy”
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
(C) Arylsulfatase A
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and dementia
Deficiency arylsulfatase A
Accumulation cerebrosulfate
AR
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and dementia
Deficiency arylsulfatase A
Accumulation cerebrosulfate AR
Krabbe diease
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
Numbness and tingling in extremities
Blurriness in eyes
Developmental delays
Krabbe
Deficiency: galactocerebrosidase
Accumulated: galactocerebroside psychosine
AR
Hepatomegaly Pancytopenia Osteoporosis Avascular necrois of femur Lipid laden marcophages - crumped tissue paper
Cherry red spot
Gaucher disease
Def: glucocerebrosidase
Accum: glucocerebroside
AR
” oh my gauch hes such a bro”
crying voice= tissue paper cytoplasm
Progressive neurodegeneration
Hepatosplenomegaly
Lipid-laden macrophages
cherry red spot
Niemann-Pick disease
Def: sphingomyelinase
Acc: sphingomyelin
AR
“Pick your BIG nose with your sphinger”
Hepatosplenomegaly
Corneal clouding
Gargoylism
Developmental delay
Hurler syndrome
Def: alpha-L- iduronidase
Accum: heparan sulfate, dermatan sulfate
Glycosaminoglycans (GAGs)
hurLer= L-iduronidase
2 y.o Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Aggressive behavior
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
- Anti-ACh receptor
- Anti-desmoglein
- Anti-hemidesmosome
- anti-helicase
- antimicrosomal
- antimitochondrial
- Myasthenia gravis
- Pemphigus vulgaris
- Bullous pemphigous
- Polymyositis, dermatomyositis
- Hashimoto
- Primary biliary cirrhosis
Asbestos affects what part of lungs
Lower lobes
Silica affects what part of lungs
Upper lobes
Coal affects what part of lungs
Upper lobes
Ivory white calcified plaques
what type of work
Asbestosis
Shipbuilding
Roofing
plumbing
Golden brown dumbbells on sputum sample
Asbestosis
Fibrosis
Eggshell calcifications of hilar LN on CXR
Silicosis
