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Clinical conditions > Body Logistics > Flashcards

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
Q

What causes COPD?

A
  • 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
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26
Q

What are the signs and symptoms of COPD?

A
  • 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
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27
Q

What is the treatment for COPD?

A
  • No cure
  • Stop getting worse by not smoking, inhalers, medication, pulmonary rehabilitiation and lung transplant
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28
Q

What is Cretinism?

A
  • Severly stunted physical and mental growth
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29
Q

What causes Cretinism?

A
  • Untreated congenital thyroid hormone deficiency
  • Hypothyroidism
  • Iodine deficiency
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30
Q

What are the signs and symptoms of Cretinism?

A
  • Severe mental defects
  • Stunted growth
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31
Q

What is the treatment for Cretinism?

A
  • Lifelong thyroxine
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32
Q

What is an Ectopic pregnancy?

A
  • When a fertilised egg implants itself outside of the womb
  • Usually in the fallopian tube
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33
Q

What causes an Ectopic pregnancy?

A
  • May have a damaged tube so egg will implant and cannot pass through
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34
Q

What are the signs and symptoms of Ectopic pregnancy?

A
  • Missed period and other signs of normal signs of pregnancy
  • Sudden lower abdominal pain and pelvic pain
  • Shoulder tip pain
  • Vaginal bleeding
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35
Q

What is the treatment for Ectopic pregnancy?

A
  • Monitor
  • Methotrexate- stops the pregnancy growing
  • Laproscopy to remove the fertilised egg
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36
Q

What is Ethler-Danlos syndrome?

A
  • Group of rare inherited conditions that affect connective tissue
  • Type III collagen deficiency- higher proportion of elastic fibres in connective tissue
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37
Q

What causes Ethler-Danlos syndrome?

A
  • Effect genes that provide instructions to make collagen
  • Autosomal dominant or recessive
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38
Q

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

A
  • Increased range of movement
  • Stretchy skin
  • Fragile skin that bruises and breaks easily
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39
Q

What is the treatment for Ethler-Danlos syndrome?

A
  • No cure
  • Repair joint damage with surgery
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40
Q

What is Horners syndrome?

A
  • Nerves of the sympathetic trunk are damaged causing classic symptoms
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41
Q

What causes Horners syndrome?

A
  • Pancoast tumour impinging on sympathetic trunk
  • Stroke
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42
Q

What are the signs and symptoms of Horners syndrome?

A
  • Droopy weak upper eyelid
  • Constriction of the pupils
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43
Q

What is the treatment for Horners syndrome?

A
  • Treat the cause
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44
Q

What is Hypoparathyroidism?

A
  • Rare hormone disorder caused by the parathyroid gland producing too little parathyroid
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45
Q

What causes Hypoparathyroidism?

A
  • Injury to the parathyroid e.g. radiation therapy, surgery or Addisons disease
  • Blood calcium levels fall and blood phosphorous levels rise
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46
Q

What are the signs and symptoms of Hypoparathyroidism?

A
  • Quick onset
    • Muscle cramps, tiredness, tingling hands mouth and feet, jerking
  • Long lasting
    • Eye problems, dry, thick skin, coarse hair, finger nails break easily
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47
Q

What is the treatment for Hypoparathyroidism?

A
  • Supplements
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48
Q

What is I cell disease?

A
  • Rare inherited disorder which causes lysosomal storage difficulties
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49
Q

What causes I cell deficiency?

A
  • 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
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50
Q

What are the signs and symptoms of I cell disease?

A
  • Coarse facial features
  • Skeletal abnormalities
  • Mental retardation
51
Q

What is the treatment for I cell disease?

A
  • Sympathetic and supportive
  • Bone marrow transplant may help
52
Q

What is Lymphedema?

A
  • Long term condition which causes a build up of lymph causing swelling
53
Q

What causes Lymphedema?

A
  • Removal of lymph nodes
  • Blockage or removal of lymphatic vessels
54
Q

What are the signs and symptoms of Lymphedema?

A
  • Build up of lymph fluid- swelling
  • Usually in the arms or legs but can be anywhere
  • Will not pit as high protein- tough
55
Q

What is the treatment for Lymphedema?

A
  • Decongestive lymphatic therapy
56
Q

What is Malignant hyperthermia?

A
  • Fast rise in body temperature
57
Q

What causes Malignant hyperthermia?

A
  • Severe reaction due to medication e.g. general anesthesia
  • Genetic mutation
  • Autosomal dominant
58
Q

What are the signs and symptoms of Malignant hyperthermia?

A
  • High body temperature
  • Severe muscle spasms
  • Fast heart rate
59
Q

What is the treatment for Malignant hypothermia?

A
  • Dantrolene and supportive care
60
Q

What is Marfans syndrome?

A
  • Genetic disorder of the bodies connective tissue
61
Q

What causes Marfans syndrome?

A
  • Mutation in the gene that produced fibrillin
  • More elastic fibres
  • Autosomal dominant
62
Q

What are the signs and symptoms of Marfans Syndrome?

A
  • Long limb and digits
  • High arched palate
  • Tall
  • Aortic and valve issues
63
Q

What is the treatment for Marfans syndrome?

A
  • No cure
  • Manage symptoms e.g. beta blockers to stop heart damage
64
Q

What is Multiple sclerosis?

A
  • Condition which can affect the brain and spinal cord causing problems with vision, movement, sensation and balance
65
Q

What causes Multiple sclerosis?

A
  • Autoimmune disease that causes the breakdown of the Myelin Sheath
66
Q

What are the signs and symptoms of Multiple Sclerosis?

A
  • Fatigue
  • Difficulty walking
  • Vision problems
  • Controlling bladder issues
  • Numbness
  • Tingling
67
Q

What is the treatment for Multiple sclerosis?

A
  • No cure
  • Beta interferons and steroids help symptoms
68
Q

What is Muscular dystrophy?

A
  • Group of inherited genetic condtions that gradually cause the muscles to weaken casuing increasing levels of disability
69
Q

What causes Muscular dystrophy?

A
  • Mutation in the gene responsible for the structure and functioning of a persons muscles
  • Can be recessive, dominant or x-linked
70
Q

What are the signs and symptoms of Muscular dystrophy?

A
  • Frequent falls
  • Difficulty running and jumping
  • Learning difficulties
71
Q

What is the treatment for Muscular dystrophy?

A
  • No cure
  • Physiotherapy, steroids and creatine may help
72
Q

What is Myasthenia gravis?

A
  • Long term condition that causes muscle weakness that comes and goes
73
Q

What causes Myasthenia gravis?

A
  • Autoimmune disease which causes destruction of nAChR
74
Q

What are the signs and symptoms of Myasthenia gravis?

A
  • Droopy eyes
  • Fatigue
  • Fainting
75
Q

What is the treatment for Myasthenia gravis?

A
  • Acetyl choline esterase inhibitors
76
Q

What is Oedema?

A
  • Accumulation of fluid in the interstitum
77
Q

What causes Oedema?

A
  • Symptoms of an underlying health condition e.g. kidney, liver or thyroid disease, pregnancy
  • Blood clots
  • Combined pill
78
Q

What are the signs and symptoms of Oedema?

A
  • Accumulation of fluid under the skin
  • Skin discolouration
  • Pitting- takes time for the fluid to return
79
Q

What is the treatment for Oedema?

A
  • Temporary- clears up on its own
  • Lose weight, exercise, raise legs to improve circulation
80
Q

What is Osteogenesis imperfecta?

A
  • Rare condition somethimes known as brittle bone disease
81
Q

What causes Osteogenesis imperfecta?

A
  • Abnormal collagen
  • Autosomal dominant
82
Q

What are the signs and symptoms of Osteogenesis Imperfecta?

A
  • Recurrent fractures
  • Blue sclera
83
Q

What is the treatment for Osteogenesis Imperfecta?

A
  • Physical therapy, fracture care, orthopedic surgery
  • Medication to strengthen bone
  • Mobility equiptment
84
Q

What is Osteomalacia?

A
  • Rickets in adults
  • Bones may become softer and weak
85
Q

What causes Osteomalacia?

A
  • Lack of vitamin D or calcium which is essential for healthy bones
86
Q

What are the signs and symptoms of Osteomalacia?

A
  • Painful and fragile bones
  • Dental problems
  • Muscle weakness
87
Q

What is the treatment for Osteomalacia?

A
  • Eat more foods with calcium and vitamin D
  • Supplements and injections
  • Sunlight
88
Q

What is Osteoporosis?

A
  • Condition which weakens bones making them more fragile and likely to break
89
Q

What causes Osteoporosis?

A
  • Type 1
    • Type I- Bone resorption in post menopausal women
    • Type II- Bone resoprtion in elderly
  • Type 2
    • Increased osteoclast, decreased osteoblast activity
90
Q

What are the signs and symptoms of Osteoporosis?

A
  • Back pain
  • Decreased height
  • Stooped posture
91
Q

What is the treatment for Osteoporosis?

A
  • Bone mineral density scan
  • DEXA is used to determine treatment
92
Q

What is Placenta praevia?

A
  • Low lying placenta
93
Q

What causes Placenta praevia?

A
  • Placenta stays low in the womb near or covering the cervix so blocks the babies way out
94
Q

What are the signs and symptoms of Placenta praevia?

A
  • Painless bright red bleeding from the vagina in last 3 months of pregancy
95
Q

What is the treatment for Placenta praevia?

A
  • 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
Q

What is Pneumonia?

A
  • Inflammation of the lungs
97
Q

What causes Pneumonia?

A
  • Bacterial infection
98
Q

What are the signs and symptoms of Pneumonia?

A
  • Cough
  • Fever
  • Shaking
  • Chills
  • Shortness of breath
99
Q

What is the treatment for Pneumonia?

A
  • Antibiotics
100
Q

What is Psoriasis?

A
  • Skin condition causing red, flaky, crusty patches of skin with silvery scales
101
Q

What causes Psoriasis?

A
  • 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
Q

What are the signs and symptoms of Psoriasis?

A
  • Red, raised, inflammed patches of skin
  • Silver- white plaques on red patches
  • Dry skin, pitted nails, itching, painful or swollen joints
103
Q

What is the treatment for Psoriasis?

A
  • Steroids
104
Q

What is Rickets?

A
  • Condition that affects bone development in children
  • Bones become weak and soft leading to deformities
105
Q

What causes Rickets?

A
  • 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
Q

What are the signs and symptoms of Rickets?

A
  • Painful bones
  • Skeletal deformity
  • Poor growth and development
  • Dental problems
  • Fragile bones
107
Q

What is the treatment for Rickets?

A
  • Increased exposure to sunlight or supplements
108
Q

What is Thyrotoxicosis?

A
  • Hyperthyroidism
  • Overactive thyroid so thyroid gland produces too much thyroid hormone
109
Q

What causes Thyrotoxicocis?

A
  • Graves disease- body attacks the thyroid
  • Lumps on the thyroid
  • Medication e.g. arrythmias
110
Q

What are the signs and symptoms of Thyrotoxicosis?

A
  • Nervousness
  • Mood swings
  • Difficulty sleeping
  • Tiredness
  • Sensitivity to heat
  • Swelling in the back of neck
  • Fast heart rate
  • Twitching
  • Weight loss
111
Q

What is the treatment for Thyrotoxicosis?

A
  • Thionamides e.g. Carbimazole or Propylthiouracil
  • Beta blockers relieve symptoms
112
Q

What is Vitiligo?

A
  • Long term condition where pale white patches develop on the skin
113
Q

What causes Vitiligo?

A
  • Lack of melanin due to lack of working melanocytes
  • Autoimmune or hyperthyroidism associated
114
Q

What are the signs and symptoms of Vitiligo?

A
  • White patches on skin
  • Sunburn risk
115
Q

What is the treatment for Vitiligo?

A
  • Skin camourflage
  • Topical corticosteroids stop spread and restore colour
116
Q

What is Xeroderma pigmentosum?

A
  • Genetic disorder of DNA repair in which the ability to repair damage caused by UV is deficient
117
Q

What causes Xeroderma pigmentosum?

A
  • Mutation in the PaH gene which causes faulty DNA repair as nucleotide base excision cannot be preformed
  • Autosomal recessive
118
Q

What are the signs and symptoms of Xeroderma pigmentosum?

A
  • More at risk of skin cancer as burns more easily
  • Freckly
  • Sensitive eyes, severe sun burn with small amounts of light
119
Q

What is the treatment for Xeroderma pigmentosum?

A
  • No cure
  • Sun cream and UV protection
120
Q

What is Zellwegger syndrome?

A
  • Absence of peroxisomes causing malformations
121
Q

What causes Zellwegger syndrome?

A
  • Absence of peroxisomes due to PEX 1 gene mutation
  • Autosomal recessive
122
Q

What are the signs and symptoms of Zellwegger syndrome?

A
  • 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
Q

What is the treatment for Zellwegger syndrome?

A
  • No cure
  • Symptomatic and supportive treatment

Clinical conditions (17 decks)

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