2nd yr help part 2 Flashcards
Name 5 recessive genetic conditions?
Iron (hemochromatosis), beta thalassemia, sickle cell anaemia, cystic fibrosis, tay sachs
R(ecessive conditions)IBS CT
Name 4 dominant genetic conditions?
Huntingdons, Long QT syndrome, Hypercholestralaemia, Adult polycystic kidney disease.
D(ominant conditions) HL HA
Name 3 X-linked conditions?
Heamophilia, Duchene’s muscular dystrophy.
Dr X(-linked) Has Disability
Embryology, what are the ball of cells called that are formed in the first 5 days?
Morula
Embryology. On what day does the syncitiotrophoblast start to produce hCG (human chorionic gonadotrophin)?
day 14
Embryology. What does the Epiblast become?
The Embryo.
Embryology. As the trophoblast pulls in Fluid, what does it become?
The blastocyst.
Embryology. When does the primitive streak form?
day 15.
Embryology. what are the 3 layers that form. they go on to become the baby.
ectoderm, mesoderm, endoderm.
Embryology. What germ layer becomes the external structures,epidermis, retina and nervous system?
The ectoderm.
Embryology. What germ layer becomes the muscle, CV system, Skeleton, Reproductive organs (pretty much everything)
The mesoderm.
Embryology. What germ layer becomes the GI and respiratory epithelium?
Endoderm.
what day does the notachord form?
day 17
What cancers are associated BRCA1 +2 gene
Breast, ovarian and prostate in men.
What is the risk of developing Colon cancer from the FAP gene?
100%
What is adrenarche?
development of pubic hair.
What is menarche?
onset of period.
what is thelarche?
breast development.
What are the 3 causes of heamaturia?
Bladder, prostate or kidney cancer, UTI, renal stones.
What is heamaturia?
Blood in the urine.
What is the 7th most common cancer in the UK?
Bladder cancer.
What is painless frank Haematuria a sign of?
Bladder cancer.
what is renal colic?
Colicky pain caused by obstruction (stones). the pain and radiates to the back. The patients can’t get comfortable.
“Loin to groin pain”
What is the most common composition of kidney stones?
CALCIUM OXALATE 70-80% (followed by calcium phosphate, uric acid, struvite, and cystine).