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Medical Cell Biology and Genetics Flashcards

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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
What is Huntingtons Disease?
* 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
What causes Huntingtons disease?
* 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
What are the signs and symptoms of Huntingtons disease?
* Personality changes, mood swings, lack of emotion, irritability, difficulty concentrating, depression * Uncontrolled movemnts such as jerking or stumbling * Difficulty feeding or communicating
28
What is the treatment for Huntingtons disease?
* No cure * Antipsychotics and antidepressants used to keep symptoms under control * May also use occupational, speech and language and physio therapists
29
What is Klinefelters sydrome?
* Males are born with an extra X chromosome * XXY
30
What causes Klinefelters syndrome?
* Nondisjuction of X chromosome during Meiosis I
31
What are the signs and symptoms of Klinefelters syndrome?
* Smaller testes * Less testosterone so less hair * Incomplete puberty
32
What is the treatment for Klinefelters syndrome?
* No cure * Treat symptoms- testosterone replacement and breast tissue removal
33
What is Patau syndrome?
* Rare and serious genetic conditon where there is an additional copy of chromosome 13 * 20% survive to first year of life
34
What causes Patau syndrome?
* Trisomy 13 * Due to nondisjunction during meiosis or robertsonian translocation
35
What are the signs and symptoms of patau syndrome?
* 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
What is the treatment for Patau syndrome?
* No cure * Treatment for particular physical problem
37
What is Progeroid syndrome?
* Patients prematurely display features of normal aging * Grow old quickly
38
What causes Progeroid syndrome?
* 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
What are the signs and symptoms of Progeroid syndrome?
* Cataracts * Skin ulcers * Type 2 diabetes * Atherosclerosis and Osteoporosis * Cancer predisposition * Look older
40
What is the treatment for Progeroid syndrome?
* No cure * Treat symptoms e.g. cataract removal
41
What is Retts syndrome?
* Rare genetic disorder that affects brain development resulting in severe mental and physical disability
42
What causes Retts syndrome?
* Mutation in MECP2 gene which produces MECP2 protein which is needed for brain developement * Can be spontaneous or X linked dominant
43
What are the signs and symptoms of Retts syndrome?
* 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
What is the treatment for Retts syndrome?
* No cure * Therapy and assistance
45
What is Scurvy?
* Rare condition that can develop if you do not have enough Vitamin C in your diet
46
What causes Scurvy?
* Vitamin C deficiency
47
What are the signs and symptoms of Scurvy?
* Weaker collagen- poor healing and bone formation * Muscle and joint pain * Tiredness * Red dots on skin * Bleeding and swelling of gums
48
What is the treatment for Scurvy?
* Vitamin C supplements
49
What is Sickle cell anemia?
* Inherited condition that causes red blood cells to become sickle shaped
50
What causes Sickle cell anemia?
* Point mutation from A to T so Glu to Val which is hydrophobic * Autosomal recessive
51
What are the signs and symptoms of Sickle cell anemia?
* 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
What is the treatment for Sickle cell anemia?
* Bone marrow transplant * Blood transfusions
53
What is Thalassaemia?
* Inherited condtion that affacts haemoglobin
54
What causes Thalassaemia?
* Decrease or absence of one type of haemoglobin * Autosomal recessive
55
What are the signs and symptoms of Thalassaemia?
* Tiredness * Shortness of breath * Pale or yellow skin * Pounding of the heart * Excess Iron overload- heart and liver problems
56
What is the treatment for Thalassaemia?
* Usually not needed * If severe then blood transfusion * Chelation therapy- removes excess iron
57
What is Turners syndrome?
* A female has one normal sex chromosome (X) rather than two (XX)
58
What causes Turners syndrome?
* Monosomy X * Usually nondisjunction in father
59
What are the signs and symptoms of Turners syndrome?
* Short stature * Heart defects * Learning disabilities * Infertility
60
What is the treatment for Turners syndrome?
* No cure * Treat symptoms- human growth hormone and eostrogen

Clinical conditions (17 decks)

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