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Biomedical Sciences > Diseases > Flashcards

Diseases Flashcards

1
Q

Carbon Monoxide Poisoning

A

CO has a 250 fold greater affinity for Hb than O2

Treated through 100% or hyperbaric O2

Histidine is the AA that prevents CO binding normally

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2
Q

Diabetes and Hb

A

Diabetes patients have a 3 fold higher [HbAc]

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3
Q

Sickle Cell Anemia

A

HbS 6Glu to Val
HbC 6Glu to Lys
Autosomal Recessive
Deoxy >sickling >V.O >Hemolysis >local ischemia, necrosis

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4
Q

Sickle Cell Treatment

A 
HbF transfusion or Hydroxyurea
Butyrate 
Bone marrow therapy
Stem cell therapy
Gene therapy-CRISPR
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5
Q

Methemoglobinemia

A

Non-functional oxidized Hb

Induced by antibiotics, mutations (Hyde Park), and Inheritence

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6
Q

Dyskeratosis Congenital

A

Reduced Telomerase Activity
Affects cells in highly proliferative tissues
-hair
-skin
-bone marrow progenitor cells»death to to failure to produce

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7
Q

Hutchinson Gilford Progeria

A

Decreased telomere activity

Advanced aging, die of MI before 20

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8
Q

Werners Syndrome

A

Mutation in WRN gene coding for Helicase involved in BER
Premature aging
Genetic instability

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9
Q

Xeromenta Pigmentosum (XP)

A

Inherited defects in GG-NER pathway
Extreme UV sensitivity, skin cancer
Mutations in XPE, XPC, XPD, XPA

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10
Q

Cockayne Syndrome

A

Inherited defect causing mutation in the TC-NER pathway
Neurological, developmental issues
Mutation in CSA, CSB
Sun sensitive, but no cancer

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11
Q

Ataxia Occulomotor Apraxia (AOA1)

A

Autosomal recessive
Caused by defect (mutation) in SSB repair at APTX gene
Looks like AT without immune issues and telangiesta
Neuropathy including movement and vision

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12
Q

Ataxia Telegiectasia (AT)

A

Autosomal Recessive
Immune deficiencies
Issue in DSB repair which causes ATM deficiency

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13
Q

Sideroblastic Anemia

A

Hypochromism
Microcytism
Sideroblasts-excessive Fe in mitochondria

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14
Q

Lead Poisoning

A

Inhibits ALAD, Ferrochelatase, Pyrimidine 5’ Nucleotidase
Gingival and long bone lead line
ALA, ZPP accumulation, basophilic stippling

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15
Q

Acute Intermittent Porphyria (AIP)

A 
Defect in PBGD
Due to 4 M's
Neurovisceral symptoms 
Decrease [heme]
PBG > porobilin > port wine urine
Need glucose, heme/hematin
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16
Q

Porphyria Cutea Tarda (PCT)

A

Most common
Defect in UROD
Alcohol, Hep B/C, HIV, sunlight, Hepatic Fe overload
Present bullae, sclerodermoid plaque on scalp
Coral fluorescence of urine, UROD assay
Remove environmental exposures, sunscreen, phlebotomy, Fe chelation

17
Q

Erythropoietic Protoporphyria (EPP)

A

Ferrochelatase mutation
Autosomal dominant
Cutaneous photosensitive
Chronic liver disease later in life

18
Q

Rhett Syndrome

A

Autism spectrum disorder
Gene mutation
MECP2 mutation

19
Q

Prayer-Willi Syndrome

A

Mental retardation

Hyperphagia

20
Q

Angelman Syndrome

A

Excessive Laughter
Seizures
Mental Retardation

21
Q

A-Thalassemia (aa–)

A

Trait
Mild anemia
Microcytosis

22
Q

A-Thalassemia (a—)

A

HbH (B4) disease

Moderately sever, hemolytic anemia

23
Q

A-Thalassemia (—-)

A

Bart’s Disease (y4)
Hydros fetalis
Death

24
Q

A-Thalassemia causes

A

Deletion on A-globin genes

LCR deletions

25
Q

B-Thalassemia causes

A

Substitutions
B0-so little B that A is gone too
B+- some Hb A is detectable
Point mutations, RNA splicing mutations, end cap mutations, AAA tail

26
Q

DB0-Thalassemia

A

Disruption of y to B production

High amount of fetal hemoglobin

27
Q

B+ Thalassemias

A

Promoter mutants
End cap mutations
Synonymous mutations
AAA tail mutations

28
Q

B0 Thalassemias

A

Deletions
Splicing defects
Nonsense mutations

29
Q

Cystic Fibrosis

A

Mutation in CTFR 508

Causes proteins to fold too slowly, thus getting degraded

30
Q

Amyloid Diseases

A

Normal proteins unfold and make insoluble aggregates

Form neurotoxin plaques

31
Q

Alzheimer’s disease

A

Abhorrent AB plaques aggregates

32
Q

Lou Gehrigs Disease (ALS)

A

Aggregation of SOD and other proteins

33
Q

Prion Disease

A

Converts wild type protein into prion

Transmissible

34
Q

Trinucleotide Expansion Disease

A

CAG (glutamine) repeats cause unchecked expansion and aggregate

  • Huntingtons
  • Machado Joseph
35
Q

HPV

A

E6 binds p53 to E2/3 and marks it with Ub

P53 is a DNA repair enzyme

36
Q

Von Hippel Lindau Tumor

A

Mutation in VDU or VHL leads to the loss of degradation of Hif1a, which in turn puts cellular metabolism in a hypoxia state. This leads to undue proliferation.

37
Q

MSI Detection

A

PCR using MSI markers

Immunohistochemistry

Biomedical Sciences (4 decks)

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