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56 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Tay-Sachs Disease
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AR
lysosomal storage disorder deficient Hexosaminidase accumulated GM2 ganglioside |
frameshift mutation
insertion of 4 nucleotides |
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Klinefelter's
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sex chromosome, XXY
decreased inhibin --> increased FSH decreased testosterone --> increased LH |
non-disjxn involving sex chromosomes,
one barr body |
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CF
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AR
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nondisjxn, deletion of 3 nucleotides with loss of phenylalanine
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sickle cell
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AR
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missense mutation,
adenine replaces thymidine--- causing valine to replace glutamate on 6th position of B-globin chain |
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B-thal major
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AR, nonsense mutation
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stop codon-- B-globulin chain,
no synthesis of Hem A (a2b2) microcytic anemia |
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name 4 trinucleotide repeat disorders
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1. fragile X syndrome, AR
2. Huntington's disease, AD 3. Friedreich's ataxia, 4. myotonic dystrophy, AD |
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name diseases with glycogenoses
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- McArdle's disease
- Pompe's disease - von Gierke's disease |
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name lysosomal disorders
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- Tay-Sachs
- Niemann-Pick disease - Hurler's syndrome - Gaucher's disease |
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Turner's syndrome
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non-disjunction
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22+23 chromosomes= 45XO
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Down's
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nondisjunction (95%)
robertsonian translocation mosaicism |
nondisjxn,
24+23=47 chromosomes, trisomy |
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Phocomelia (seal like upper limb)
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thalidomide
also: amelia (absent limbs) deafness |
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complete hearth block
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SLE
anti-RO IgG Abs from mother cross placenta and attack conduction system |
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SGA
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smoking
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craniofacial defects
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Isotretinoin- cystic acne tx
females always PG test Isotretinoin disrupts fxn of the HOX gene, important in morphogenesis |
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SIDS @ 4 months
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smoker
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microcephaly & ACD
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FAS
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repeated spontaneous abortions
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DES during pregnancy: cervical incompetence
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RDS
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DM II, fetal insulin inhibits surfactant production
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disseminated vesicular rash (+ Tzanck)
& intrauterine growth restriction |
HSV II,
contracted via passage thru birth canal |
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periventricular calcification
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CMV,
transplacental, abnormal cytological finding in newborn urine sed |
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machinery murmur & sensorineural hearing loss
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rubella,
transplacental, patent ductus arteriousus (machinery murmur) |
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blindness, peg teeth, nasal defect
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syphilis,
prostitute, IV drug user, transplacental saddle nose deformity |
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blindness and basal ganglia calcification
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toxoplasmosis- cat litter
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baby with cataract, "blueberry muffin" rash
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rubella
also- sensorineural deafness, PDA< thrombocytopenia, hepatomegaly |
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what is best to sceen for CMV?
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urine culture
intranuclear inclusions in renal tubular cells |
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what is transmitted via the birth canal?
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HSV II, HIV
HIV - all 3 transplacentally, thru breast milk, birth canal |
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galactose 1 PO4 uridyl transferase
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galactosemia
accumulate galactose mental retard, hypglycemia, cataracts AVOID DAIRY |
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phenylalanine hydroxylase
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PKU
mental retardation, microcephaly, decreased tyrosine, decreased pigmentation AVOID PKU ADD TYROSINE |
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aldolase B
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hereditary fructose intolerance
hypoglycemia, cirrhosis AVOID FRUCTOSE & SUCROSE (honey, fruit) |
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muscle phosphorylase
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adult with muscle fatigue & no increase in lactic acid with exercise
McArdle's disease Glycogenosis |
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homogentisate oxidase
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alkaptonuria
adult with degenerative joint disese & BACK URINE on exposure to light |
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chilf with hepatorenomegaly & fasting hypoglycemia unresponsive to glucagon challenge
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von Fierke's disease-
G6P deficiency |
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Hexosaminidase
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Tay-Sachs
GM2 ganglioside blindness, cherry red macula, mental retard, retinal abnormality |
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Sphingomyelinase
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Niemann-Pick
mental retard, hepatosplenomegaly, foamy machrophages |
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Glucocerebrosidase
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Gaucher's
adult with hepatosplenomegaly & machrophages in BM with fibrillar appearance |
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a-L-Iduronidase
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Hurler's syndrome
mental retard, corneal clouding, coarse facial features |
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G6PDH
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no GSH in RBC, peroxide renature Hgb (Heinz bodies) intravascular hemolysis
dapsone- leprosy sulfur drug |
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genomic mutation involving stop codon
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severe b-thal
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homocystene + serine --> cystathionine
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Homocystinuria
cystathionine synthase- mental retard, vessel thrombosis, lens dislocation, arachnodactyly (like Marfans) |
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fructose 1PO4 --> G3P + DHAP --> glucose
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hereditary fructose intolerance
aldose B not eat fruits or honey |
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Galactose 1PO4 + UDP-glucose --> glucose 1PO4 + UDP galactose
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galactosemia
GALT derease in G1P, so decreased G6P galactose & galactitol accumulate --> cataracts, liver & kidney disease AVOID DAIRY |
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Fructose --> fructose 1PO4
Galactose --> galactose 1PO4 |
accumulation of 6 carbon sugars that react with clinitest tablets
fructokinase deficiency galactokinase deficiency |
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glucose 6PO4 --> glucose
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von Gierke's glycogenesis
glucose 6 phosphatase hypoglycemia, enlarged liver and kidneys, stimulation test do not work, since missing enzyme |
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name 3 metabolism disorders with hypoglycemia?
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von Gierke's
her. fructose intol. galactosemia |
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mosaicism
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nondisjxn in MITOSIS
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dermatan & heparan sulfate
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Hurler's
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glycogen accumulation
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ponpe's disease
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MC true hermaphroditism
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XX 46
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microcephaly, rnal agenesis, congenital heart disease
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cocaine
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mc anticoagulant used in PG
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heparin DOC
warfarin = rasal hypoplasia, CNS defects, bleeding |
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still borns
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abruptio placenta
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spontaneous abortions
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trisomy 16 - Patau's syndrome
Edwars' syndrome - trisomy 18 (clenched hands) (remember- edward was 18 in book) |
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MC valvular disease due to dengenerative changes
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aortic stenosis
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MCC pneumonia in old
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Streptococcus pneumoniae (get Pneumovax)
nursing home - Klebsiella |
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missense mutation diseases
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marfans
sickle cell |
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nonsense mutation
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severe b-thal
stop codon! |
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