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).
What are the investigatoins of renal colic?
- Urine dipstick test. Blood-nitirite.
- 1 MSU for microscopy, culture & sensitivity (MC&S)
- 2Pregnancy test if within reproductive age group
- Spiral non contrast CT - imaging of choice (99% visible)
what is the treatment for renal stones?
Initially analgesia - painkillers,
Stones less than 5mm - 90-95% pass spontaneously.
More than 5mm - medical expulsive therapy (calcium channel blocker or alpha blocker) - nifedipine or tamsulosin
If that doesn’t work ESWL (shockwave lithotripsy)
What does renal stone treatment ESWL stand for?
Electro shockwave lithotripsy
What drugs are used in renal stone expulsion therapy?
nifedipine (calcium channel blocker) or tamsulosin (Alpha blocker)
Whatis the antibiotic treatment for a uti?
Trimethoprim or nitrofurantoin. In pregnancy (and resistance dependant) treat first with notrofurantoin, second with trimethoprim (suplementing folate) and then cefalexin
What is the most common pathogenic cause of UTI?
E.coli.
what are the symptoms of uti?
Fever.
Painful urination.
Flank pain - upper abdomen / back.
what is the clinical definition of a UTI and what findings would you have from a urine dipstick test?
Clinical definition UTI - 1000 organisms / ml of freshly voided urine.
+ve Nitrites (bacteria proroduce nitrite from nitrate) and +wbc
What condition is caused by compression of the median nerve and what fingers does it affect?
Medial nerve - Carpal tunnel syndrome. thumb, Index,middle and lateral half of the ring finger. thenar wasting.
What is Meralgia paresthetica? And which nerve does it affect?
Meralgia paresthetica is compression of the femoral cutaneous nerve and causes nebness on the upper lateral thigh. tight trousers and pregnant women.
What condition is associated with wrist drop?
Saturday night palsy. Caused by compression of the radial nerve.
What causes pain, tingling, numbness, or burning on the top of the foot, ankle, or outer part of the lower leg?
Common peroneal nerve entrapment.
What condition is Hypothenar wasting associated with?
Ulnar nerve entrapment.
What is Guilaine barre syndrome?
It is an ascending polyneuropathy.
Rapid onset. 60% follow infection.
Starts in hands and feet - moves to lungs.
Pain, tingling and numbness.Progressive muscle weakness.
Can lead to respiratory arrest
Important to do spirometry to check lung function
Treatment - intravenous immunoglobulins
What is Myesthenia gravis?
It is an autoimmune disease where antibodies work against acetylcholine receptors preventing acetylcholine binding to the receptor thus inhibiting an action potential from becoming a muscle contraction
FATIGUABILITY - giveaway in SBA
Drooping of eyelids
Weakness of muscles of swallowing - dysphagia
Voice - quiet (muscles which control vocal cords weaken)
Treatment - Pyridostigmine (inhibits acetylcholinesterase - enzyme which breaks down acetylcholine).
What is Lambert-eaton syndrome?
Similar to Myasthenia Gravis
Autoimmune disease that is antibodies blocking voltage gated calcium channels. No calcium influx means no release of acetylcholine from vesicles.
Get gait disturbance before eye signs.
Reflexes get better with increased testing
What is Charcot Marie tooth?
Charcot-Marie-Toothis a group of inherited conditions that damage the peripheral nerves that gets progressivly worse throughout life.
Muscle weakness in the feet, ankles, legs and hands
An awkward way of walking (gait)
Highly arched or very flat feet
Numbness in the feet, arms and hands
What is diabetic neuropathy?
Diabetic neuropathy is a toxic neuropathy associated with poorly controlled diabetes.Excess glucose damages nerve cells and leads to a glove and stocking distribution.
What is motor neuron disease?
Motor neuron disease is the degeneration of motor neurons. it usually starts one sided and is not painful.
It is chacterised by a weakened grip, weakness at the shoulder that makes lifting the arm difficult, a “foot drop” caused by weak ankle muscles, dragging of the leg and slurred speech (dysarthria).
In neuroembryology, what is/does the procephalon become?
it becomes the forebrain - cerebral hemispheres, pituitary, hypothalamus.
in neuroembryology, what does the Rhombencephalon become?
It becomes the hindbrain - medulla, pons, cerebellum
In neuroembryology, what does the Mesencephalon become?
Midbrain
What is a diagnosis of obesity?
A BMI over 30.
what are treatments for obesity?
Treatment - orlistat (intestinal lipase inhibitor Side effect - fatty stools Lifestyle - diet, exercise Treat co-morbidities Gastric banding - strict criteria
What does leptin do?
Lowers appetite.