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35 Cards in this Set
- Front
- Back
Haemochromatosis |
Overload of iron. Can cause fatigue and damage to the liver, joints, heart and pancreas. Treated by giving blood. AUTOSOMAL RECESSIVE |
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Sickle Cell Anaemia |
Red blood cells are misshapen. Can lead to chest or joint pain and infections, as well as anaemia. AUTOSOMAL RECESSIVE |
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Thalassemia |
Body makes faulty haemoglobin. Can be 'major' or 'minor'. African/Middle Eastern/Asian families. AUTOSOMAL RECESSIVE |
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Cystic fibrosis |
AUTOSOMAL RECESSIVE. 1 in 25 background risk of being a carrier. Affects lungs and digestive system and can affect fertility. |
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Wilson's |
Fault in storing too much copper which can affect liver and brain if untreated- however can be treated with chelation (penicilliamine). AUTOSOMAL RECESSIVE |
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Haemophilia A |
Also known as factor 8 deficiency. Causes problem with blood clotting. X LINKED RECESSIVE meaning only males have it, and only females pass it on. |
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Haemophilia B |
Also known as Factor 9 deficiency or Christmas Disease. Causes problem with blood clotting. X LINKED RECESSIVE meaning only boys have it and only girls can pass it on. Can be mild moderate or severe. |
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Becker muscular dystrophy |
Slow progressive muscle weakness first affecting the legs and pelvis. X LINKED RECESSIVE. Less severe than Duchennes, very individual, life expectancy 40-50 |
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Duchenne muscular dystrophy |
Severe form of muscular problem usually onset in early childhood. X LINKED RECESSIVE. Life expectancy early 30s. |
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Fragile X |
Causes intellectual disability and characteristic facial features. A common cause of autism. X LINKED DOMINANT, so females can be affected also. |
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Turner's syndrome |
X0. Only one working copy of the X chromosome. Girls with webbed necks, short stature, usually normal intelligence. Infertile. |
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Klinefelter Syndrome |
XXY. Males with an extra X. Causes infertility and small testicles. Intelligence usually normal. |
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Infertility bloods |
FSH/LH day 1-5 of cycle Progesterone 7 day before period Chlamydia/rubella serology |
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UKMEC BMI |
Over 35 is UKMEC 3 30-34 is 2 |
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UKMEC smoking |
If over 35 and smoking, UKMEC 3 if under 35 and smoking, UKMEC 2 Need to have stopped for Over 1y to reduce |
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UKMEC Migraine |
Migraine with aura, UKMEC 4 without aura, UKMEC2, unless it starts after starting the pill, where it's a 3 |
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UKMEC VTE FH |
If VTE in family aged over 45, UKMEC 2. if VTE in family under 45, UKMEC 3 |
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UKMEC BP |
If over 140/90, UKMEC 3 Remains UKMEC 3 if then well controlled |
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UKMEC breast cancer FH |
FH of breast cancer UKMEC 1 (unless BRCA positive in which case UKMEC 3) |
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UKMEC breastfeeding |
Can restart COCP after 6w |
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UKMEC postpartum |
3-6w can use COCP only if no other risk factors for VTE |
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Emergency contraception: coil vs oral |
If less than 5 days ago, and is now less than 5 days after earliest likely date of ovulation, advise Coil. Unless, they've had other UPSI in same cycle (may need pregnancy test and then Oral EC) |
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Emergency contraception: oral choices |
If less than 96h, use Levonorgestrel. If BMI over 26 or weight over 70kg, double dose. Quickstart contraception.If between 96h and 120h, use Ulipristal. Wait 5 days, then start contraception.
If between 96h and 120h, use Ulipristal. Wait 5 days, then start contraception. |
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Smear test |
Start at 25 Every 3 years until 49 Every 5 years 50-74 |
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Breast cancer screening |
50 to 70 every 3 years Can be requested after that 1 in 25 get called back. 1 in 4 of those get diagnosed with Ca. |
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Breast cancer FH |
1x 1st degree under 40 1 1st/2nd of any age 3 2nd degree relatives Bilateral breast ca 1st degree male breast ca Jewish ancestry Ovarian cancer |
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Quickstart contraception |
Ok if in days 1-5 of period. If after this, needs additional contraception for 1 week |
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When can a pregnancy test exclude pregnancy? |
After 21 days |
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Stage 2 HTN |
Clinic BP over 160/100 Home BP over 150/95 |
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Stage 2 HTN |
Clinic BP over 160/100 Home BP over 150/95 |
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Pelvic Inflammatory Disease |
Refer all patients/contacts to GUM clinic Metronidazole 400mg BD +Doxycycline 100mg BD for 14 days |
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Bacterial Vaginosis |
Metronidazole 400mg BD for 7 days |
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Chlamydia |
Azithromycin 1g STAT OR, Doxycyline 100mg BD for 7 days (14 if PID) |
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Chlamydia |
1g azithromycin. Or doxycycline 100mg BD |
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Down's Screening |
risk age 20 = 1/1500, age 30=1/800, age 40=1/100 11-14w check; Combined Test. Calculated using maternal age, hormone levels, and nuchal fold. If "High Risk" i.e less than 1.150 chance, goes on to Chorionic Villous Sampling or Amniocentesis. |