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Clinical conditions > Medical Cell Biology and Genetics > Flashcards

Medical Cell Biology and Genetics Flashcards

1
Q

What is Amyloidosis?

A
  • Amyloid fibres build up
  • Amyloid is a protein produced in the bone marow that can be deposited in tissues and organs
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2
Q

What causes Amyloidosis?

A
  • Antibodies
  • Chronic infections
  • Dialysis
  • Hereditary- Autosomal Dominant
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3
Q

What are the signs and symptoms of Amyloidosis?

A
  • Effects the heart, kidney, brain, nerves and other organs
  • Change in skin colour
  • Arrythmias
  • Edema of the ankles and legs
  • Englarged tongue
  • Fatigue, weakness, weight loss
  • Shortness of breath
  • Dementia/Alzeimers
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4
Q

What is the treatment for Amyloidosis?

A
  • No cure
  • Chemotherapy, steroids, stem cell tranplants will stop more proteins being produced and treat symptoms
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5
Q

What is Cystic fibrosis?

A
  • Inherited condition where the respoiratory, reproductive, sweat and digestive system become clogged with thick and sticky mucus
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6
Q

What causes Cystic fibrosis?

A
  • Cystic fibrosis transmembrane regulator gene is no longer inserted into the membrane
  • This means chloride ions cannot be transported out
  • So mucus becomes more viscous as there is less water
  • Autosomal recessive
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7
Q

What are the signs and symptoms of Cystic fibrosis?

A
  • Recurring chest infections as mucus traps bacteria
  • Difficulty putting on weight
  • Diarrhea
  • Shortness of breath
  • Wet sounding cough
  • Mucus blocks pancreatic duct so digestive enzymes cannot reach the stomach
  • Salty sweat
  • Vas deferens blocked as doesnt develop
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8
Q

What is the treatment for Cystic fibrosis?

A
  • No cure
  • Treat symptoms
    • Lipase tablets to digest fat
    • Targeted therapies
    • Physio drugs
  • Lifestyle advice
    • No smoking
    • Avoid other CF patients
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9
Q

What is Down syndrome?

A
  • Genetic condition that typically causes some level of learning difficulty and certain physical characteristics
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10
Q

What causes Down sydrome?

A
  • Trisomy 21
  • Due to nondisjunction of meiosis or a robertsonian translocation
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11
Q

What are the signs and symptoms of Down sydrome?

A
  • Imparied intelligence
  • Characteristic facial features
  • Higher risk of Alzheimers and Leukemia
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12
Q

What is the treatment for Down sydrome?

A
  • No cure
  • Speech, occupational and exercise therapy
  • Amino acid suppements and Piracetam
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13
Q

What is Edwards syndrome?

A
  • Rare but serious genetic condition with a wide range of severe medical problems
  • 12% will survive to first year of life
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14
Q

What causes Edwards syndrome?

A
  • Trisomy 18
  • If mosaic trisomy 18 or partial then may be less severe
  • Due to non disjunction in meiosis or robertsonian translocation
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15
Q

What are the signs and symptoms of Edwards syndrome?

A
  1. Rockerbottom feet
  2. Overlapping fingers
  3. Small lower jaw
  4. Heart, feeding and breathing problems
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16
Q

What is the treatment for Edwards syndrome?

A
  • No cure
  • Symptoms dfficult to manage
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17
Q

What is Ether-Danlos syndrome?

A
  • Group of rare inherited conditions that affect connective tissue
  • Type III collagen deficency- higher properotion of elastic fires in connective tissue
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18
Q

What causes Ethler-Danlos syndrome?

A
  • Effect genes that provide instuctions to make collagen
  • Autosomal dominant or recessive
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19
Q

What are the signs and symptoms of Ethler-Danlos syndrome?

A
  • Increased range of movement
  • Stretchy skin
  • Fragile skin that breaks and bruises easily
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20
Q

What is the treatment for Ethler-Danlos syndrome?

A
  • No cure
  • Surgery to repair joint damage
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21
Q

What is Haemophilia A?

A
  • Rare condition that affects the bloods ability to clot
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22
Q

What causes Haemophilia A?

A
  • Absense of clotting factor VIII
  • X- linked recessive
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23
Q

What are the signs and symptoms of Haemophilia A?

A
  • Prolonged bleeding
  • Skin that bruises easily
  • Pain and stiffness around joints
  • Internal bleeding
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24
Q

What is the treatment for Haemophilia A?

A
  • No cure
  • Replacement therapy- give clotting favor VIII
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25
Q

What is Huntingtons Disease?

A
  • Progressive inherited brain disorder that damages the neurons in the brain
  • Develops between 35-55
  • Gets worse until the person dies around 10-25 years after onset
26
Q

What causes Huntingtons disease?

A
  • Mutatin in HTT gene as contains abnormal CAG repeats therefore makes an abnormally long huntingtin protein
  • This protein is cut into smaller toxic fragments that bind together and accumulate in the neurons
  • This causes dysfunction and death of neurons
  • Autosomal dominant
27
Q

What are the signs and symptoms of Huntingtons disease?

A
  • Personality changes, mood swings, lack of emotion, irritability, difficulty concentrating, depression
  • Uncontrolled movemnts such as jerking or stumbling
  • Difficulty feeding or communicating
28
Q

What is the treatment for Huntingtons disease?

A
  • No cure
  • Antipsychotics and antidepressants used to keep symptoms under control
  • May also use occupational, speech and language and physio therapists
29
Q

What is Klinefelters sydrome?

A
  • Males are born with an extra X chromosome
  • XXY
30
Q

What causes Klinefelters syndrome?

A
  • Nondisjuction of X chromosome during Meiosis I
31
Q

What are the signs and symptoms of Klinefelters syndrome?

A
  • Smaller testes
  • Less testosterone so less hair
  • Incomplete puberty
32
Q

What is the treatment for Klinefelters syndrome?

A
  • No cure
  • Treat symptoms- testosterone replacement and breast tissue removal
33
Q

What is Patau syndrome?

A
  • Rare and serious genetic conditon where there is an additional copy of chromosome 13
  • 20% survive to first year of life
34
Q

What causes Patau syndrome?

A
  • Trisomy 13
  • Due to nondisjunction during meiosis or robertsonian translocation
35
Q

What are the signs and symptoms of patau syndrome?

A
  • Cleft lip and palate
  • Heart defects
  • Small eyes with reduced distance between eyes or no eyes
  • Nasal devlopment issues
  • Small head
  • Ear malformations
  • Skin from scalp missing
36
Q

What is the treatment for Patau syndrome?

A
  • No cure
  • Treatment for particular physical problem
37
Q

What is Progeroid syndrome?

A
  • Patients prematurely display features of normal aging
  • Grow old quickly
38
Q

What causes Progeroid syndrome?

A
  • WRN gene mutation
  • Werner protein is abnormal- this is a helicase important in DNA replication
  • Defects lead to DNA replication defects and DNA damage
  • Autosomal recessive
39
Q

What are the signs and symptoms of Progeroid syndrome?

A
  • Cataracts
  • Skin ulcers
  • Type 2 diabetes
  • Atherosclerosis and Osteoporosis
  • Cancer predisposition
  • Look older
40
Q

What is the treatment for Progeroid syndrome?

A
  • No cure
  • Treat symptoms e.g. cataract removal
41
Q

What is Retts syndrome?

A
  • Rare genetic disorder that affects brain development resulting in severe mental and physical disability
42
Q

What causes Retts syndrome?

A
  • Mutation in MECP2 gene which produces MECP2 protein which is needed for brain developement
  • Can be spontaneous or X linked dominant
43
Q

What are the signs and symptoms of Retts syndrome?

A
  • Early
    • low muscle, difficulty feeding, jerky movements, delayed speech, lack of toy interest
  • Regression
    • loss of abilities e.g. hand movements, distress, irritable, social withdrawal
  • Plateu
    • improvements but also seizures and irregular breathing
  • Deterioration
    • Spinal curve, muscle weakness, losing ability to walk
44
Q

What is the treatment for Retts syndrome?

A
  • No cure
  • Therapy and assistance
45
Q

What is Scurvy?

A
  • Rare condition that can develop if you do not have enough Vitamin C in your diet
46
Q

What causes Scurvy?

A
  • Vitamin C deficiency
47
Q

What are the signs and symptoms of Scurvy?

A
  • Weaker collagen- poor healing and bone formation
  • Muscle and joint pain
  • Tiredness
  • Red dots on skin
  • Bleeding and swelling of gums
48
Q

What is the treatment for Scurvy?

A
  • Vitamin C supplements
49
Q

What is Sickle cell anemia?

A
  • Inherited condition that causes red blood cells to become sickle shaped
50
Q

What causes Sickle cell anemia?

A
  • Point mutation from A to T so Glu to Val which is hydrophobic
  • Autosomal recessive
51
Q

What are the signs and symptoms of Sickle cell anemia?

A
  • Sickle shaped red blood cells which cause blockage in vessels
  • Ischemia
  • Anemia- tiredness and shortness of breath
  • Sickle cell crisis
    • pain, inflammation, ulcers and infections
52
Q

What is the treatment for Sickle cell anemia?

A
  • Bone marrow transplant
  • Blood transfusions
53
Q

What is Thalassaemia?

A
  • Inherited condtion that affacts haemoglobin
54
Q

What causes Thalassaemia?

A
  • Decrease or absence of one type of haemoglobin
  • Autosomal recessive
55
Q

What are the signs and symptoms of Thalassaemia?

A
  • Tiredness
  • Shortness of breath
  • Pale or yellow skin
  • Pounding of the heart
  • Excess Iron overload- heart and liver problems
56
Q

What is the treatment for Thalassaemia?

A
  • Usually not needed
  • If severe then blood transfusion
  • Chelation therapy- removes excess iron
57
Q

What is Turners syndrome?

A
  • A female has one normal sex chromosome (X) rather than two (XX)
58
Q

What causes Turners syndrome?

A
  • Monosomy X
  • Usually nondisjunction in father
59
Q

What are the signs and symptoms of Turners syndrome?

A
  • Short stature
  • Heart defects
  • Learning disabilities
  • Infertility
60
Q

What is the treatment for Turners syndrome?

A
  • No cure
  • Treat symptoms- human growth hormone and eostrogen

Clinical conditions (17 decks)

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