Bsce 2 2017

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The text discusses various medical conditions, diseases, laboratory findings and their associated symptoms, causes and treatments. It also discusses types of mutations and different organ systems/areas of the body.

Some conditions/diseases mentioned include Huntington disease, fragile X syndrome, alkaptonuria, ethylene glycol poisoning, maple syrup disease, various vitamin deficiencies, celiac disease, schizophrenia, mitral valve prolapse, various cancers, cystic fibrosis, Guillain-Barre syndrome and more. Many of their associated symptoms or characteristics are also provided.

Types of mutations discussed include missense mutations, T-T dimer mutations (caused by UV radiation), and variable expressivity between individuals with the same disease.

Yalla

Habibi 2017 BSCE II Part 1

1. Chorea movements = Huntington disease. chromosome 4


2. Fragile x (CGG) - macroorchidism (enlarged testes), long face with a large jaw, large
everted ears, autism, mitral valve prolapse. Promotor region.
3. Calculate clearance? T1/2= 0.7 X (Vd/Cl)
4. Activation of alpha subunit G coupled protein receptor, asked how ? Replacement of
GDP to GTP
5. PEP to pyruvate, asked why its irreversible? Because of large negative delta G
6. Something about prevent chromosome from getting shorter? Tolmere was the answer
7. Anion gap = Na+ - ( Cl- + HCO3-) Normal range 8-12
8. Renal issues w/ Lab values, person ingested toxin but you don’t know what it is. Figure
out that there was an Increase anion gap . Ethylene glycol was answer
9. Renal issues w/ Lab values, person drinking ethylene glycol. What would you find in
urine? Calcium oxalate
10. Calcium oxalate was found in urine what did person drink? Ethylene glycol
11. Kid had low protein intake , what amino acid is he def in ? Lysine
12. What Chemical rx does aspirin block COX and specifically? Acetylation
13. Alcoholic person = thymidine def
14. Bleeding gums = Vitamin C
15. 4 Q on anorexia
16. Girl was vegetarian taking vitamins, getting dry mouth, papilledema . What vitamin is
she overdosing on? Vitamin A
17. Kid Dark urine upon standing. SO its alkaptonuria. Which aa is effected? Tyrosine
18. Person w. renal transplant , after 10 days get reject? Acute rejection NOTE: If it has
maculopapular rash then its Graft vs host
19. Bone marrow transplant , maculpapular rash = Graft vs host due to CD8 cells
20. Person say have recurrent infection viral, fungi, bacteria. How do you treat? Bone
marrow transplant
21. Person had decrease clearance what would you have to change when giving drug?
Maintance dose
22. Pic for physio Cl and whatever going in and out what would happen to equilibrium
potential ?
23. Boy self mutilation = Leisch nyahn disease = HGPRT (converts hypoxanthine to IMP
and guanine to GMP )
24. picture of Urea cycle had high orotic acid & Carbamoyl phosphate . What enzyme def?
Must label (orhtinine transcarbomylase)
25. 3’ to 5’ is to take out mismatched stuff
26. Similarity between E coli and Candidia? Have origin of replication . Here the questions
is test if you know diff/similarity between pro/Euk
27. What type of mutation is in PKU? Missense
28. What type of mutation does UV radiation cause? T-T dimer
29. 2 kids had disease , 1 had it more severe than other due to … Variable expressivity
30. High homocysteine and high methionine , bunch of marfan symptoms .. problem =
Cystathionine synthase
31. Which enzyme cortisol induced??? Glycogen synthase and PNMT (were either of these
Yalla Habibi 2017 BSCE II Part 1

an answer??)
32. Cafe le lout spots = NF what type of inheritance ? AD
33. Digeorge syndrome , Due to 3rd and 4th pharyngeal/ branchial pouches.
34. Digeorge syndrome= Symptoms of having infection, hypocalcemia , current infection
with something.
35. lactate dehydrogenase def., what will be depleted? NAD+ if not an answer then ATP
36. Muscle on EM , point where energy comes from (circle was mitochondria)
37. where enzymes get package? Need to point out golgi ( EM)
38. Another EM point out Mitochondria
39. Herpes where does it lie DRG
40. Herpees It travels on sensory nerves
41. Tx for herpes what does it do ? DNA polymerase inhibitor (acylovoir)
42. Microcephaly , hepatomegaly, spots (blueberry) = CMV
43. Burnt pee = maple syrup disease , asked enzyme maybe? Blocks Branched chain alpha
ketoacid dehydrogenase
44. Picture of liver, has tumor in ass and showed metastasis to liver. Asked why? VGEF
45. Picture showed RBC w/ Neutrophils. Neurology issues. Probably vitamin B12. Def in
what enzyme? Methylmalonyl Coa Mutase
46. Few gluconeogenesis . What would be decrease? Fructose 2,6 bisphospahte
47. Pt w hypoglycemia, tx glycerol and fructose didn’t help. Then gave galactose they were
fine. What was the issue? Gluconeogenesis
48. Complex 3 to complex 4 . Something is wrong cyt C
49. Know lymph drainage of lower lip - submental lymph
50. temporal lobe seizure = herpes simplex
51. Davenport port mixed acidosis
52. easiest part of urethra to puncture when giving a cath = membranous
53. would healing C5a = Neutrophil migration
54. Kid with albinism with other issues = chidak
55. PDA = left 6th arch
56. How to make heme? glycine and succinyl coa
57. Glucocorticoids blocks PLA2
58. Non smoker has disease what does he have? Adenocarcinoma
59. Where would you find low amount of NH4? Portal vein
60. HbF has higher affinity for O2 because less binding to 2-3 BPG
61. Major def in which globulin gene would not be compatable with life? Alpha
62. acute gout= neutrophil not granuloma
63. Holosystolic murmur = VSD
64. Schizophrenia – Pt had 7 months of symptoms, hearing and etc
65. Delusions - people are talking to them thru the radio
66. FSH is High which factor decreases it? Inhibin
67. Person has a bump on arm, wasn’t blister or anything = Nodule
68. Able to communicate and have same voltage = gap junction
69. Celiac or churns transmigration of something = tight junction
70. PCR = You need DNA, polymerase, Primer, nucleotide
Yalla Habibi 2017 BSCE II Part 1

71. what part of brain can cause damage to CN 1 = frontal lobe


72. bar fight image to bone in face showed swelling into the maxillary sinus what would
happen? Impingement inferior rectus
73. Described AD inheritance then give 5 different pedigree as answer choices. Make sure
you don’t Mix AD with mitochondrial .
74. pt got over their addiction wanted to become professional speaker = sublimation was a
ego defense one
75. oligohydramnios caused by urethral valve
76. renin concentration would be highest at the renal pelvis
77. getting shot above pubic symphsis would go through the bladder
78. MAP= TPR X CO or TPR = MAP-RAP/Co
79. GFR= UxV/P
80. Carpal tunnel which movement of thumb will be decreased? Opposition
81. Duodenal atresia = Down syndrome
82. Male infant , throwing up = pyloric sphincter hypertrophied
83. Male infant ,Non bilious voititng = pyloric sphincter hypertrophied
84. Hypospadias = failure urethral folds
85. Epispadias = fault positioning of genital tubercule
86. H&E of sweat gland, what comes out? Clear watery fluid
87. Person has fibular fracture , what would you notice when they are walking? Dorsiflexion
88. Person does experiment, decrease alpha from 0.05 to 0.01 = Decrease type 1 error
89. Mid systolic click = Mitral valve prolapse
90. Prolactin comes from acidophile
91. person in accident , got central diabetes insipudis , what would you see in urine and
plasma osmalrity ? Urine osmolarity low , Plasma osmolarity high
92. Where does final activation of 1,25 hydroxy vitamin D ? Kidney
93. Lady gave birth and didn’t have period for 8 months after , tx for post part hemorrhage
so she has Sheehan= Pituitary infract
94. Person taking cancer drug they vomit , after few times they vomit before taking drug.
What do they have ? Classical condition
95. Show 4 images of spikes which is MM? Spike in 1st hump and spike in last hump
96. Person had change in skin, mental issue. Which aa is affected? Tryptophan
97. Girl get headaches and ora light flashing and shit = migrane
98. Cluster headaches – one side of the head
99. Had Influenza then got strep , why would influenza cause that? mucociliary escalator
being defective
100. Treatment of CF = Disulfide bonds
101. Guillan barre ascending paralysis and asked what to do? Mechanical ventilator
estrogen causes upregulation of progesterone receptors
102. Von-Gierke’s enzyme = Glucose-6-phosphatase (They gave the cycle so know where
these enzyme are)
103. Pompe enzyme = lysosomal acid alpha 1-4 glucosidase with alpha-1-6-glucosidase
activity
104. Cystathione synthatase def = homocystineuria
105. OI how do you make proper diagnosis ? Check eyes and teeth
Yalla Habibi 2017 BSCE II Part 1

106. Acyclovir = IV DOC for HSV encephalitis


107. Fragile X = CGG repeat. X-linked dominant. FMR1 gene. Protruding chin. Promoter.
Macro-orchidism
108. Hypervitaminosis (vitamin A) causing pseudomotor cerebri
109. G6Pd
110. Bone marrow picture fatty = Aplastic anemia
111.

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