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COM - MOD 1 > Ch 5 Slides - Dobson > Flashcards

Ch 5 Slides - Dobson Flashcards

1
Q

How is red-green color vision inherited?

What genes?

A

X-linked

OPN1LW

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2
Q

Marfan is a disorder of CTs manifested in changes where?

What kind of inheritance?

A

Skeleton, eyes, cardiovascular system

Autosomal dominant

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3
Q

What is the most common manifestation of dyslipidemia?

Most commonly associated with what?

A

Xanthomas

High levels of LDL

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4
Q

Xanthomas deposit where?

A

Ligaments and tendons, less commonly in the periosteum and fascia

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5
Q

Metabolic block and decreased amount of end product is associated with what?

A

Lesch-Nyhan

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6
Q

Failure to inactivate a tissue damaging substrate results in what?

A

Alpha1-antitrypsin

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7
Q

Tay-Sachs is associated with what enzyme deficiency?

A

Hexosaminidase a-subunit

Most common of all GM2 gangliosides

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8
Q

What dominates the clinical picture in Tay-Sachs disease?

A

Involvement of neurons in the central and ANS and retina

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9
Q

Nieman-Pick Disease Type A is characterized by what?

A

Accumulations of sphingomyelin (Hepatosplenomegaly) and progressive wasting and early death by age 3

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10
Q

Neiman-Pick Disease Type B is characterized by what?

A

NO CNS involvement

Survive into adulthood

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11
Q

Neiman-Pick Disease Type C is due to what?

A

Due to a primary defect in nonenzymatic lipid transport and is more common that types A and B combined

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12
Q

Neiman-Pick disease is due to accumulation of what?

Deficiency of what enzyme?

A

Lysosomal accumulations of sphingomyelin

Sphingomyelinase

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13
Q

Gaucher disease results from mutations in what gene?

A

Glucocerbrosidase

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14
Q

Gaucher Type I is described as what?

A

Chronic, non-neuronopathic type, most common

Mononuclear phagocytes throughout the body (spleen and skeleton) but NOT the BRAIN

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15
Q

Type II Gaucher disease characterized how?

A

Acute neuronopathic, infantile acute cerebral pattern

No Jews involved

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16
Q

What are the symptoms of Type I Gaucher?

A

Splenomegaly, bone fractures, cytopenias

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17
Q

MPSs results from deficiency in what?

A

Enzymes involved in degradation of mucopolysaccharides (GAGs)

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18
Q

What types of substances involved in MPS?

A

Dermatan sulfate
Heparan sulfate
Keratin sulfate
Chondroitin sulfate

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19
Q

which MPS syndrome is inherited via X-linked recessive method?

A

Hunter syndrome

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20
Q

What clinical features characterize MPS?

A

Coarse facial features, clouding of the cornea, joint stiffness, mental retardation

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21
Q

Where is MPS generally found?

A

Mononuclear phagocytic cells, endothelial cells, intimal smooth muscle cells, fibroblasts

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22
Q

What are common features of all the MPSs?

A

Hepatosplenomegaly, skeletal deformities, valvular lesions, subendothelial arterial deposits, particularly in the coronary arteries and lesions in the brain

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23
Q

What are the clinical features of Von Gierke disease?

What type of disease is it?

A

Hepatic enlargement and hypoglycemia

type I glycogenoses

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24
Q

McArdle disease is characterized by what?

What type is it?

A

Present with muscle cramps after exercise and lactate levels in the blood fail to rise after exercise due to a block in glycolysis

type V glycogenoses

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25
Q

What is the most prominent feature of Pompe disease?

Associated with what else?

A

Cardiomegaly

Lysosomal storage of glycogen in all organs

26
Q

What is the a common clinical feature between Patau and Edwards syndrome?

A

Renal disease

27
Q

What is responsible for Down syndrome?

A

95% extra chromosome
4% Robertsonian translocation
1% mosaic

28
Q

Patients with Down syndrome are at risk for what?

A

Congenital heart disease
Acute leukemia
Alzheimer disease
serious infections especially of the lungs

29
Q

What are the clinical features of DiGeorge’s syndrome?

A

Absence of thymus and parathyroid glands
Hypocalcemia
Low-set ears, wide-set eyes, small jaw

30
Q

What 2 genes are affected in DiGeorge’s syndrome?

A

TBX1 which targets PAX9

31
Q

What is the most common cause of hypogonadism in men?

A

Klinefelter syndrome, 47 XXY

32
Q

Patients with Klinefelter syndrome are at higher risk for what?

A

breast cancer
type 2 diabetes
Mitral valve prolapse

33
Q

what are the clinical features of Turner syndrome?

A 
Webbed neck
Coarctation of aorta
Short stature 
Cubitus valgus
Streak ovaries
34
Q

Fragile-X syndrome is a result of what?

What type of mutation?

A

CGG trinucleotide repeat

loss of function

35
Q

Fragile X syndrome often causes what?

What gene?

A

2nd most common cause of mental retardation after Down

FMR1 gene

36
Q

Clinical features of fragile X syndrome?

A 
Behavioral aspects
Large, protruding ears
Long face
Flat fee
High-arched palate
37
Q

What is the most distinctive feature in Fragile X syndrome?

A

Macro-orchidism

38
Q

What syndrome is characterized by mental retardation, short stature, hypotonia, profound, hyperphagia, obesity, small hands and feet, hypogonadism?

What genetics?

A

Prader-Willi

Father genomic imprinting

39
Q

Patients with Angelman syndrome characterized by what?

A

Mentally retarded, ataxic gait, seizures, inappropriate laughter (happy puppet)

40
Q

cystic fibrosis is due to what genetic mutation?

A

3 base deletion in F508 on chromosome 7

41
Q

What enzyme is deficient in von Gierke disease?

A

G6P

42
Q

What enzyme is deficient in McArdle disease?

A

Muscle phosphorylase

43
Q

What enzyme is deficient in Pompe disease?

A

Acid maltase aka lysosomal glucosidase

44
Q

What are important Autosomal dominant disorders to know?

A

HOME FV

Huntington
Osteogenesis imperfecta
Marfan
EDS (some variants)

Familial hypercholesterolemia
vWF

45
Q

Autosomal dominant diseases have mutations in what?

A

Structural protein or receptor

46
Q

Autosomal recessive disorders have what type of mutation?

A

In enzymes

47
Q

What are some X-linked recessive disorders?

A 
DMD
Agammaglobulinemia 
Wiskott-Aldrich 
DI
Leach-Nyhan
Fragile X
48
Q

What are the 5 mutation classes for familial hypercholesterolemia?

A

Some Times Bitches Come Real

1 - Synthesis 
2 - Transport
3 - Binding
4 - Clustering
5 - Recycling
49
Q

Presence of a xanthomas indicates what?

A

Familial hypercholesterolemia

50
Q

What disease is characterized by a metabolic block and decreased amount of end product?

A

Lesch-Nyhan

51
Q

The involvement of neurons in the CNS and ANS and retina dominating the clinical picture indicates what?

A

Tay Sachs

52
Q

What disease is associated with fibrillary cytoplasm that can be resolved as elongated, distended lysosomes, containing stored lipid in stacks of bilayers on electron microscope?

A

Gaucher disease

54
Q

What disease microscopically has the appearance of balloon cells in the cytoplasm?

A

MPS

55
Q

Where are MPS generally found?

A

Mononuclear phagocytic cell
Endothelial cells
Intimal smooth muscle cells
Fibroblasts

56
Q

Upon electron microscopy there is presence of vacuoles engorged secondary lysosomes containing membranous cytoplasmic bodies, resembling concentric lamellated myelin figures, called zebra bodies, what does this indicate?

A

Niemann-Pick Type A

57
Q

What is the trinucleotide repeat for Huntington disease?

A

CAG

59
Q

What disease is charcterized by a fibrillary type of cytoplasm likened to crumpled tissue paper?

A

Gaucher

62
Q

Upon exam with electron microscope, the presence of whorled configurations within lysosomes composed of onion-skin layers of membranes indicates what?

A

Tay Sachs

63
Q

Vacuolar ion and ballooning of neurons constitute the dominant histological change in the nervous system of what disease?

A

Niemann-Pick A

66
Q

What is the trinucleotide repeat for Friedreich ataxia?

A

GAA

COM - MOD 1 (7 decks)

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