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Body Logistics Flashcards

1
Q

What is Achondroplasia?

A
  • Bone growth disorder which causes dispropotionate dwarfism
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2
Q

What causes Achondroplasia?

A
  • FGRF3 mutation
  • Decreased endochondral ossification
  • Autosomal Dominant
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3
Q

What are the signs and symptoms of Achondroplasia?

A
  • Short stature
  • Limbs shorter and out of proportion
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4
Q

What is the treatment for Achondroplasia?

A
  • No cure
  • Growth hormone can help
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5
Q

What is Acromegaly?

A
  • Hormonal disorder where the pituitary gland produces too much growth hormone
  • Giantism
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6
Q

What causes Acromegaly?

A
  • Pituitary tumours- usually benign adenomas
  • Non pituitary tumours that secrete GH or GH-RH
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7
Q

What are the signs and symptoms of Acromegaly?

A
  • Removal of tumours e.g. Radiation therapy
  • Growth hormone blocking drugs
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8
Q

What is Alopecia areata?

A
  • Patches of boldness the size of a large coin
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9
Q

What causes Alopecia areata?

A
  • Hyperthyroidism
  • Some genes may have a link
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10
Q

What are the signs and symptoms of Alopecia areata?

A
  • Patchy hair loss
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11
Q

What is the treatment for Alopecia areata?

A
  • Intralesional steroids
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12
Q

What is Botulism?

A
  • Rare but life threatening condition caused by Clostridium Boutulism bacteria
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13
Q

What causes Botulism?

A
  • Toxins block acetyl choline release
  • Found in food or in wounds
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14
Q

What are the signs and symptoms of Botulism?

A
  • Paralyis
  • no muscle contraction
  • Drooping eyelids and double vision
  • Difficulty swallowing
  • Slurred speech
  • If spread to breathing muscles- fatal
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15
Q

What is the treatment for Botulism?

A
  • Antitoxin
  • Support breathing
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16
Q

What is Cellulitis?

A
  • Bacterial infection of the deeper layers of the skin
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17
Q

What causes Cellulitis?

A
  • Bacteria will enter through a cut or crack in the skin
  • Usually staphlococcus or streptococcus
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18
Q

What are the signs and symptoms of Cellulitis?

A
  • Pain and tenderness in the affected area
  • Redness
  • Tight, glossy swollen appearance
  • Sore and fever
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19
Q

What is the treatment for Cellulitis?

A
  • Penicillin or substitite
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20
Q

What is Cirrhosis?

A
  • Scarring/Fibrosis of the Liver
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21
Q

What causes Cirrhosis?

A
  • Stellate cells lose their ability to store Vitamin A and become myofibroblasts and lay down collagen in the sinusoid
  • Alcohol
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22
Q

What are the signs and symptoms of Cirrhosis?

A
  • Fatigue
  • Bleeding and bruising easily
  • Jaundice
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23
Q

What is the treatment for Cirrhosis?

A
  • No cure or repair
  • Lifestyle changes, surgery, medicines may prevent further damage
  • Liver transplant
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24
Q

What is COPD?

A
  • Chronic obstructive pulmonary disease
  • Lung condition that causes difficulty breathing
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25
What causes COPD?
* Smoking and exposure to harmful fumes or dust * Emphysema- destruction of the alveoli walls giving enlarged air spaces * Chronic bronchitis- long term inflammation of the airway
26
What are the signs and symptoms of COPD?
* Breathlessness * Barrelled chest- loss of elastin so lungs will not recoil * Bronchiole collapse as not held open by alveoli * Chesty cough and wheezing * Frequent chest infections
27
What is the treatment for COPD?
* No cure * Stop getting worse by not smoking, inhalers, medication, pulmonary rehabilitiation and lung transplant
28
What is Cretinism?
* Severly stunted physical and mental growth
29
What causes Cretinism?
* Untreated congenital thyroid hormone deficiency * Hypothyroidism * Iodine deficiency
30
What are the signs and symptoms of Cretinism?
* Severe mental defects * Stunted growth
31
What is the treatment for Cretinism?
* Lifelong thyroxine
32
What is an Ectopic pregnancy?
* When a fertilised egg implants itself outside of the womb * Usually in the fallopian tube
33
What causes an Ectopic pregnancy?
* May have a damaged tube so egg will implant and cannot pass through
34
What are the signs and symptoms of Ectopic pregnancy?
* Missed period and other signs of normal signs of pregnancy * Sudden lower abdominal pain and pelvic pain * Shoulder tip pain * Vaginal bleeding
35
What is the treatment for Ectopic pregnancy?
* Monitor * Methotrexate- stops the pregnancy growing * Laproscopy to remove the fertilised egg
36
What is Ethler-Danlos syndrome?
* Group of rare inherited conditions that affect connective tissue * Type III collagen deficiency- higher proportion of elastic fibres in connective tissue
37
What causes Ethler-Danlos syndrome?
* Effect genes that provide instructions to make collagen * Autosomal dominant or recessive
38
What are the signs and symptoms of Ethler-Danlos syndrome?
* Increased range of movement * Stretchy skin * Fragile skin that bruises and breaks easily
39
What is the treatment for Ethler-Danlos syndrome?
* No cure * Repair joint damage with surgery
40
What is Horners syndrome?
* Nerves of the sympathetic trunk are damaged causing classic symptoms
41
What causes Horners syndrome?
* Pancoast tumour impinging on sympathetic trunk * Stroke
42
What are the signs and symptoms of Horners syndrome?
* Droopy weak upper eyelid * Constriction of the pupils
43
What is the treatment for Horners syndrome?
* Treat the cause
44
What is Hypoparathyroidism?
* Rare hormone disorder caused by the parathyroid gland producing too little parathyroid
45
What causes Hypoparathyroidism?
* Injury to the parathyroid e.g. radiation therapy, surgery or Addisons disease * Blood calcium levels fall and blood phosphorous levels rise
46
What are the signs and symptoms of Hypoparathyroidism?
* Quick onset * Muscle cramps, tiredness, tingling hands mouth and feet, jerking * Long lasting * Eye problems, dry, thick skin, coarse hair, finger nails break easily
47
What is the treatment for Hypoparathyroidism?
* Supplements
48
What is I cell disease?
* Rare inherited disorder which causes lysosomal storage difficulties
49
What causes I cell deficiency?
* Deficiency in Kinase enzyme which phosphorylates mannose group of proteins destined for lysosomes * Lysosomes appear bloated as they dont contain enzymes to break them down
50
What are the signs and symptoms of I cell disease?
* Coarse facial features * Skeletal abnormalities * Mental retardation
51
What is the treatment for I cell disease?
* Sympathetic and supportive * Bone marrow transplant may help
52
What is Lymphedema?
* Long term condition which causes a build up of lymph causing swelling
53
What causes Lymphedema?
* Removal of lymph nodes * Blockage or removal of lymphatic vessels
54
What are the signs and symptoms of Lymphedema?
* Build up of lymph fluid- swelling * Usually in the arms or legs but can be anywhere * Will not pit as high protein- tough
55
What is the treatment for Lymphedema?
* Decongestive lymphatic therapy
56
What is Malignant hyperthermia?
* Fast rise in body temperature
57
What causes Malignant hyperthermia?
* Severe reaction due to medication e.g. general anesthesia * Genetic mutation * Autosomal dominant
58
What are the signs and symptoms of Malignant hyperthermia?
* High body temperature * Severe muscle spasms * Fast heart rate
59
What is the treatment for Malignant hypothermia?
* Dantrolene and supportive care
60
What is Marfans syndrome?
* Genetic disorder of the bodies connective tissue
61
What causes Marfans syndrome?
* Mutation in the gene that produced fibrillin * More elastic fibres * Autosomal dominant
62
What are the signs and symptoms of Marfans Syndrome?
* Long limb and digits * High arched palate * Tall * Aortic and valve issues
63
What is the treatment for Marfans syndrome?
* No cure * Manage symptoms e.g. beta blockers to stop heart damage
64
What is Multiple sclerosis?
* Condition which can affect the brain and spinal cord causing problems with vision, movement, sensation and balance
65
What causes Multiple sclerosis?
* Autoimmune disease that causes the breakdown of the Myelin Sheath
66
What are the signs and symptoms of Multiple Sclerosis?
* Fatigue * Difficulty walking * Vision problems * Controlling bladder issues * Numbness * Tingling
67
What is the treatment for Multiple sclerosis?
* No cure * Beta interferons and steroids help symptoms
68
What is Muscular dystrophy?
* Group of inherited genetic condtions that gradually cause the muscles to weaken casuing increasing levels of disability
69
What causes Muscular dystrophy?
* Mutation in the gene responsible for the structure and functioning of a persons muscles * Can be recessive, dominant or x-linked
70
What are the signs and symptoms of Muscular dystrophy?
* Frequent falls * Difficulty running and jumping * Learning difficulties
71
What is the treatment for Muscular dystrophy?
* No cure * Physiotherapy, steroids and creatine may help
72
What is Myasthenia gravis?
* Long term condition that causes muscle weakness that comes and goes
73
What causes Myasthenia gravis?
* Autoimmune disease which causes destruction of nAChR
74
What are the signs and symptoms of Myasthenia gravis?
* Droopy eyes * Fatigue * Fainting
75
What is the treatment for Myasthenia gravis?
* Acetyl choline esterase inhibitors
76
What is Oedema?
* Accumulation of fluid in the interstitum
77
What causes Oedema?
* Symptoms of an underlying health condition e.g. kidney, liver or thyroid disease, pregnancy * Blood clots * Combined pill
78
What are the signs and symptoms of Oedema?
* Accumulation of fluid under the skin * Skin discolouration * Pitting- takes time for the fluid to return
79
What is the treatment for Oedema?
* Temporary- clears up on its own * Lose weight, exercise, raise legs to improve circulation
80
What is Osteogenesis imperfecta?
* Rare condition somethimes known as brittle bone disease
81
What causes Osteogenesis imperfecta?
* Abnormal collagen * Autosomal dominant
82
What are the signs and symptoms of Osteogenesis Imperfecta?
* Recurrent fractures * Blue sclera
83
What is the treatment for Osteogenesis Imperfecta?
* Physical therapy, fracture care, orthopedic surgery * Medication to strengthen bone * Mobility equiptment
84
What is Osteomalacia?
* Rickets in adults * Bones may become softer and weak
85
What causes Osteomalacia?
* Lack of vitamin D or calcium which is essential for healthy bones
86
What are the signs and symptoms of Osteomalacia?
* Painful and fragile bones * Dental problems * Muscle weakness
87
What is the treatment for Osteomalacia?
* Eat more foods with calcium and vitamin D * Supplements and injections * Sunlight
88
What is Osteoporosis?
* Condition which weakens bones making them more fragile and likely to break
89
What causes Osteoporosis?
* Type 1 * Type I- Bone resorption in post menopausal women * Type II- Bone resoprtion in elderly * Type 2 * Increased osteoclast, decreased osteoblast activity
90
What are the signs and symptoms of Osteoporosis?
* Back pain * Decreased height * Stooped posture
91
What is the treatment for Osteoporosis?
* Bone mineral density scan * DEXA is used to determine treatment
92
What is Placenta praevia?
* Low lying placenta
93
What causes Placenta praevia?
* Placenta stays low in the womb near or covering the cervix so blocks the babies way out
94
What are the signs and symptoms of Placenta praevia?
* Painless bright red bleeding from the vagina in last 3 months of pregancy
95
What is the treatment for Placenta praevia?
* 18-21 week ultrasound recorded and offered 32 week scan in 9/10 women will have moved * Caesarean * Risk of blood loss so must be in hospital for blood transfusion
96
What is Pneumonia?
* Inflammation of the lungs
97
What causes Pneumonia?
* Bacterial infection
98
What are the signs and symptoms of Pneumonia?
* Cough * Fever * Shaking * Chills * Shortness of breath
99
What is the treatment for Pneumonia?
* Antibiotics
100
What is Psoriasis?
* Skin condition causing red, flaky, crusty patches of skin with silvery scales
101
What causes Psoriasis?
* Hyperproliferation of keratinocytes * Skin cells are replaced more rapidly than normal * Usually skin cells move up and old ones flake off in 3-4weeks * In Psoriasis this occurs in 3-7 days so cells are not fully matured
102
What are the signs and symptoms of Psoriasis?
* Red, raised, inflammed patches of skin * Silver- white plaques on red patches * Dry skin, pitted nails, itching, painful or swollen joints
103
What is the treatment for Psoriasis?
* Steroids
104
What is Rickets?
* Condition that affects bone development in children * Bones become weak and soft leading to deformities
105
What causes Rickets?
* Vitamin D or calcium deficiency * More likely in dark skin as Vitamin D from sun * Bones are less rigid as less calcium is absorbed
106
What are the signs and symptoms of Rickets?
* Painful bones * Skeletal deformity * Poor growth and development * Dental problems * Fragile bones
107
What is the treatment for Rickets?
* Increased exposure to sunlight or supplements
108
What is Thyrotoxicosis?
* Hyperthyroidism * Overactive thyroid so thyroid gland produces too much thyroid hormone
109
What causes Thyrotoxicocis?
* Graves disease- body attacks the thyroid * Lumps on the thyroid * Medication e.g. arrythmias
110
What are the signs and symptoms of Thyrotoxicosis?
* Nervousness * Mood swings * Difficulty sleeping * Tiredness * Sensitivity to heat * Swelling in the back of neck * Fast heart rate * Twitching * Weight loss
111
What is the treatment for Thyrotoxicosis?
* Thionamides e.g. Carbimazole or Propylthiouracil * Beta blockers relieve symptoms
112
What is Vitiligo?
* Long term condition where pale white patches develop on the skin
113
What causes Vitiligo?
* Lack of melanin due to lack of working melanocytes * Autoimmune or hyperthyroidism associated
114
What are the signs and symptoms of Vitiligo?
* White patches on skin * Sunburn risk
115
What is the treatment for Vitiligo?
* Skin camourflage * Topical corticosteroids stop spread and restore colour
116
What is Xeroderma pigmentosum?
* Genetic disorder of DNA repair in which the ability to repair damage caused by UV is deficient
117
What causes Xeroderma pigmentosum?
* Mutation in the PaH gene which causes faulty DNA repair as nucleotide base excision cannot be preformed * Autosomal recessive
118
What are the signs and symptoms of Xeroderma pigmentosum?
* More at risk of skin cancer as burns more easily * Freckly * Sensitive eyes, severe sun burn with small amounts of light
119
What is the treatment for Xeroderma pigmentosum?
* No cure * Sun cream and UV protection
120
What is Zellwegger syndrome?
* Absence of peroxisomes causing malformations
121
What causes Zellwegger syndrome?
* Absence of peroxisomes due to PEX 1 gene mutation * Autosomal recessive
122
What are the signs and symptoms of Zellwegger syndrome?
* Poor muscle tone and feeding * Seizures, hearing and vision loss, distinctive facial feature, skeletal and abnormalities * Usually do not survive past first year of life
123
What is the treatment for Zellwegger syndrome?
* No cure * Symptomatic and supportive treatment

Clinical conditions (17 decks)

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