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MCM > Diseases 2 > Flashcards

Diseases 2 Flashcards

1
Q

cholesterol uptake is disrupted; defect in gene for LDL receptor; atherosclerotic plaques due to high LDL

A

Familial Hypercholesterolemia

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2
Q

defects in assembly of peroxisome; 12 genes; usually death within first year of life

A

Zellweger Spectrum Disorders

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3
Q

NER (Nucleotide Excision Repair) deficiency; sensitivity to light, more likely to get melanomas and squamous cell carcinoma; cyclobutane dimers form in the DNA

A

Xeroderma Pigmentosum

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4
Q

inherited defects in one of the alleles of the MER (Mismatch Excision Repair) complex ; increased susceptibility to the cancers

A

Hereditary Nonpolyposis Colorectal Cancer

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5
Q

rare autosomal recessive; ERCC6 and ERCC8 involved in TCR (Transcription Coupled Repair); growth retardation, sensitivity to sunlight, skeletal abnormalities; dead by 20

A

Cockayne’s Syndrome

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6
Q

Double stranded repair problem; BRCA1 and BRCA2 are tumor suppressor genes; higher chance of all cancers especially breast

A

BRCA Genes

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7
Q

missense mutation; substitute Valine (GTG) for Glutamic Acid (GAG); alters HbA leading to rigid structure with poor O2 capacity

A

Sickle Cell Anemia

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8
Q

OOF deletion (frameshift) in dystrophin gene; little/no dystrophin protein; muscle wasting and death via respiratory failure

A

Severe Duchenne Muscular Dystrophy

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9
Q

In frame deletion (frameshift) in dystrophin gene; truncated dystrophin protein; muscle replaced with fat and fibroid, elevated creatine kinase (CK)

A

Becker Muscular Dystrophy

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10
Q

Lysosomal storage disease (severe); defective tagging of M6P so buildup in cytoplasm; failure to thrive and developmental delays (6 months)

A

I Cell Disease

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11
Q

Buildup of amyloid beta peptide (AB) plaques; Hyperphosphorylation of Tau (intracellular) both contribute

A

Alzheimer’s Disease (AD)

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12
Q

Aggregation of alpha synuclein (AS) protein forms insoluble Lewy bodies in dopaminergic neurons in the substantia nigra; leads to decreased dopamine available

A

Parkinson’s Disease (PD)

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13
Q

mutation in huntington gene leads to CAG triplet repeats; results in polyglutamine repeats and abnormal HTT protein; selective death of cells in basal ganglia

A

Huntington’s Disease (HD)

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14
Q

misfolding of prion proteins; transmissible and infects normal proteins; TSEs (spongiform)

A

Creutzfeldt-Jacob Syndrome (CJD)

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15
Q

AI disorder in which TSI binds and overstimulates TSH receptors leading to increased T3 and T4

A

Grave’s Disease

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16
Q

toxin binds alpha of Gs and activates continuously; adenylate cyclase on constantly making cAMP; Cl- channels open and diarrhea

A

Cholera Toxin

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17
Q

Toxin binds alpha of Gi and prevents activation; less inhibition of adenylate cyclase; too much cGMP and mucous in airway

A

Pertussis

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18
Q

(XO); short female, don’t ovulate (puberty); CV defects; normal intelligence (Non-disjunction)

A

Turner Syndrome

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19
Q

(XXY); primary hypogonadism (low T), undescended testicles, man boobs, tall, varying level of social abilities, infertile

A

Klinefelter Syndrome

20
Q

trisomy 21; increased risk w/ maternal age; also robertsonian translocation or mosaic

A

Down’s Syndrome

21
Q

trisomy 13; perinatal death within one week; severe abnormalities

A

Patau Syndrome

22
Q

trisomy 18; abnormal development; most perinatal death in one year

A

Edward’s Syndrome

23
Q

Paternal is deleted and maternal is imprinted; behavior problems, intellectual disabilities, obesity, and small feet

A

Prader-Willi Syndrome

24
Q

Maternal is deleted and paternal is imprinted; severe developmental delays; happy demeanor

A

Angelman Syndrome

25
Q

degeneration of retinal ganglion cells; acute or subacute loss of central vision; Mitochondrial disorder

A

Leber’s Hereditary Optic Neuropathy (LHON)

26
Q

affects many body systems (brain, NS, muscles), stroke and dementia, lactic acidosis; mitochondrial disorder

A

Mitochondrial encephalopathy, lactic acidosis, and stroke like episodes (MELAS)

27
Q

hypertrophy b/w stomach and duodenum; more common in males b/c lower threshold

A

Pyloric Stenosis

28
Q

Variable expressivity; leads to tumors in brain and spinal cord; patients have pigmented spots on skin

A

Neurofibromatosis

29
Q

Autosomal dominant; affects ankyrin complex; defective anchor points causing the membrane to detach and peel off

A

Hereditary Spherocytosis

30
Q

Autosomal dominant; spectrin-spectrin lateral bonds and spectrin-ankyrin bonds are defective; membrane fails to rebound and progressively elongates

A

Hereditary Elliptocytosis

31
Q

HbS at AA position 6 of Beta-globin (Glu->Val); hemoglobin polymerizes

A

Sickle Cell Anemia

32
Q

Organ dysfunction due to iron overload (cirrhosis, arthritis, etc.; 60s); autosomal recessive; mutations in HFE gene; dysregulation of iron uptake and export

A

Hereditary Hemochromatosis

33
Q

Lack of intrinsic factor; another megaloblastic macrocytic anemia

A

Pernicious Anemia

34
Q

Hyberbilirubinemia; imbalance between production and excretion of bilirubin

A

Jaundice

35
Q

Increased production of unconjugated BR; normal ALT and ASThemolytic anemias, hemorrhage; Glucose-6-Phosphate Deficiency

A

Pre-Hepatic Jaundice

36
Q

Impaired hepatic uptake, conjugation, or secretion of conjugated BR; increases in unconjugated and conjugated BR, ALT, and AST; normal uribilinogen levels, conjugated BR in urine; liver cirrhosis, Gilbert and Criggler-Najjar syndromes

A

Intra-Hepatic Jaundice

37
Q

Problem with BR excretion; obstruction, gall stones, drugs; elevated conjugated BR, normal AST and ALT, Conjugated BR in urine (dark); no urobilin or stercobilin in feces and urine

A

Post-Hepatic Jaundice

38
Q

elevation of unconjugated bilirubin (physiological); immature hepatic metabolic pathways; deficiency of UDP-GT enzyme; breakdown of HbF

A

Neonatal Jaundice; treat with phototherapy

39
Q

deficiency of UDP-GT; type 1 is complete absence of gene; BR accumulates in brains of babies (encephalopathy); benign due to mutation in UDP-GT gene

A

Criggler-Najjar Syndrome

40
Q

Common, benign, reduced activity of UDP-GT (25%)

A

Gilbert Syndrome

41
Q

Inflammation of liver, increased unconjugated and conjugated, accumulation of BR in skin and sclera

A

Hepatitis

42
Q

Too many RBCs made; 3 types

A

Polycythemia

43
Q

Bone marrow is normal, but is responding to low O2 levels

A

Secondary Polycythemia

44
Q

Normal bone marrow; resulting from altitude changes; lung and heart disease

A

Physiologic Polycythemia

45
Q

Bone marrow is making RBCs inappropriately

A

Polycythemia Vera (Primary)

46
Q

Large amounts of ferric iron (Fe3+) in the heme; cannot bind oxygen so behaves like anemia; the other chains have increased affinity for O2 and will not release it

A

Methemeglobinemia

MCM (16 decks)

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