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.
What does ghrelin do?
raises appetite.
What is Thin ideal internalisation?
is an increase in body disatisfaction.
What is a non-pharmaceutical intervention for obesity?
Cognitive diffusion (mindfulness). helpful to distance people from negative thoughts.
Dieting is associated with weight gain or loss?
Gain!
What is the opposite of the placebo effect?
The nocebo - expecting a bad outcome and getting it.
What constitutes the foregut?
Foregut - mouth to duodenum (bile duct entrance)
What constitutes the mid gut?
Midgut - small intestine, caecum, appendix, ascending colon, first ⅔ transverse colon.
What constitutes the Hindgut?
Hindgut - later ⅓ of transverse colon, rectum, descending colon, sigmoid colon
What is the foregut bloodsupply?
Coeliac trunk.
What is the midgut blood supply?
Superior mesenteric artery.
What is the hindgut arterial blood supply?
inferior mesenteric artery.
When your arm stays in the same place, what kind of contraction is this?
Isometric contraction - length stays the same
When your arm contracts, what kind of contraction is this?
concentric contraction.
When your arm extends, what kind of contraction is this?
excentric contraction.
What muscle fibers are found in long distance runners?
Slow twitch. red muscle with Lots of blood. large volumes of myoglobin and so oxygen and high numbers of Mitochondria. Due to this fact they are very resistant to fatigue and are capable of producing repeated low-level contractions by producing large amounts of ATP through an aerobic metabolic cycle.
What muscle fibers are found in normal people?
fast twitch type 2a. red but with white muscle (glycogen stores).These fibers contain a large number of mitochondria and Myoglobin, hence their red colour. They manufacture and split ATP at a fast rate by utilising both aerobic and anaerobic metabolism and so produce fast, strong muscle contractions, although they are more prone to fatigue than type I fibers.
What muscle fibers are found in sprinters?
fast twitch type 2b. White musle. Often known as fast glycolytic fibers they are white in colour due to a low level of myoglobin and also contain few mitochondria. They produce ATP at a slow rate by anaerobic metabolism and break it down very quicky. This results in short, fast bursts of power and rapid fatigue.
What is the most common proteoglycan?
AGGRECAN. biglycan.decorin.
What are the muscles in the hand supplied by the median nerve?
LOAF muscles Lateral lumbricals Opponens pollicis Abductor pollicis brevis Flexor pollicis brevis
Golfer’s elbow is inflammation of where?
Medial epicondyle.
Tennis elbow is inflammation of where?
Lateral epicondyle.
What are clues to a torn ACL?
planting foot suddenly (tibia wants to move back)
What are clues to a torn PCL?
landing on knee, dashboard injury
What is a transient loss of consciousness called?
syncope. As your brain is starved of oxygen you lose consciousness.
What is postural hypotension?
Postural hypotension is defined as a reduction in systolic blood pressure of 20mmHg or more after standing for at least one minute. Also known as orthostatic hypotension
What is a stokes-adam attack?
A stokes-adam is caused by lack of cardiac output due to cardiac asystole, heart block or ventricular fibrillation. The resulting lack of blood flow to the brain is responsible for the faint. Typically, complete (third-degree) heart block is seen on the ECG during an attack
What part of the ECG represents ventricular depolarisation?
QRS complex.
Which part of the ECG represents atrial depolarisation?
P wave.
Which part of the ECG represents ventricular repolarisation?
T wave.
Which part of the ECG represents the conduction from the atria to ventricles via the His-Purkinje system?
PR interval
How long is a normal QRS complex?
120 milliseconds or 3 small boxes.
How long is a normal PR interval?
120-200 milliseconds. 3-5 small boxes.
What is the definition of 1st degree Heart block?
A regular heart beat with a PR interval of more than 200 milliseconds. The conduction between atria and ventricles is blocked - hence the term Heart Block.
What is the definition of 2nd degree heart block, Mobitz 1?
A increase of the PR interval. it steadily gets longer before “dropping” a QRS complex. You get a non conducted P wave.
What is the definition of 2nd degree heart block, Mobitz 2?
Mobitz 2 - fixed ratio 2:1 2 P waves for every QRS.
What is the definition of 3rd degree heartblock?
There is no association between the QRS complex and the P wave. Also called complete heartblock. The depolarisation of the AV node is simply not reaching the Sinus node and its firing off randomly.
What defines Mean arterial pressure?
Mean arterial pressure = total peripheral resistance/cardiac output. (MAP=TPR/CO)
How do you calculate mean arterial pressure?
Systolic + 2 x diastolic / 3
How do you work out if it is left or right bundle branch block?
look at leads V1 and V6. If there is a depolarisation in V1 giving a “W” and polarisation in V6 giving an “M” think “WiLLiaM” for LEFT bundle branch block. If it is the other way round and there is an “M” in V1 and a “W” in V^ think “MaRRoW” for right bundle brach block.
What is the definition of Bundle branch block?
QRS duration of > 120 ms
Dominant S wave in V1
What is “term” pregnancy?
Term pregnancy is 38-42 weeks. Or 40 weeks + LMP.
If the baby is born before 38 weeks it is considered premature.
What defines a still birth and a miscarriage?
After 24 weeks but not viable - still birth, before 24 week miscarriage.
What is gravidity?
it is the Number of times a women has been pregnant.
What is parity?
It is the number of deliveries after 24 weeks regardless of whether the baby was dead or alive
What is a primagravida?
A woman who is pregnant for the first time.
In relation to Gravidity and parity, what does the number in brackets mean eg. G3P1(+2)
It refers to the number of miscarriages or terminations.
What is the first stage of labour (latent)?
During the latent phase contractions start and the muscles of the uterus (womb) contract and make the cervix become flat and soft, at the same time as opening it to 3-4cm.
What is the first stage of labour (active)?
It is the retraction and dilation of the cervix to 10cm.
What is the second stage of labour? (propulsion?)
full cervical dilation –> head to pelvic floor
What are the 5 stages of labour?
1st-latent, 1st - active, 2nd - propulsive, second - expulsive, 3rd - delivery of the placenta.
What is the second stage of labour (expulsive)?
urge to bear down and ends with delivery of the foetus.
what is the 3rd stage of labour?
Delivery of the placenta.
What point is feotal descent considered engagement?
When the head reaches the pelvic bring or inslet.
What is crowning?
it is the widest part of the head passing through the soft tissues of the peroneum.
What is the mechanism of labour. FIR CERIEL
Flexion and descent, Internal rotation of head, Crowning - baby head emerges, Extension, Restitution - head realigns with shoulders Internal rotation of shoulders External rotation of fetal head Lateral flexion of body
What does station refer to during labour?
The relationship of the head of the foetus to the ischeal spines of the mother.
What is labour that is taking too long called?
failure to progress.
What drug do we give to speed labour up?
oxytocin. - given via slow IV infusion.
Important for cervical dilatation and contractions
What drug is administered to prevent haemorrhage during labour?
Ergometrine.
What drug is administered to help deliver the placenta?
Syntometrine. Syntocin+ergometrine.
What do we administer in postpartum hemorrhage caused by uterine atony not controlled by other methods.
Carboprost.
What is Foetal presentation?
Whats coming out first, cephalic is head, breach is feet first.
What is foetal attitude?
is the relationship of the head to the chest. i.e flexed.
What is foetal lie?
Straight forward, is it lying. normally its longitudinal, but it can also be either oblique or transverse.
What is foetal position?
What the babies occiput is facing. If its occiput is facing the mothers pubic symphesis, that is Occipitoanterior.
Drugs that should not be administered to pregnant women?
No trimethoprim in first trimester of pregnancy.
Misoprostol - used in prevention of NSAID caused ulcers - do not use in pregnancy as it leads to abortion
Use of NSAIDs not advised during pregnancy - clot inhibiting drugs
what is an ectopic pregnancy?
Egg develops outside womb
Most common - ampulla of fallopian tube
what is Hyperemesis gravidarum?
Excessive nausea and vomiting during pregnancy.
What is a placental abruption?
Seperation of the uterus from the uterine was. Painful bleeding.
What is the mucus plug that forms on the cevical entrance called?
show.
Where in the nephron does ADH act?
Distal tubule and collecting duct.
Where in the nephron do diuretics act?
depending on the diuretic, but loop diuretics affect the loop of henle.
Where in the nephron does aldosterone act?
Distal tubule and collecting duct.
What is the renin-angiotensiogen system?
Renin is produced in the glomerulus of the kidneys in response to changes in renal perfusion pressure detected via stretch receptors in the vascular walls. Renin interacts with angiotensinogen that is produced in the liver to form angiotensin. This travels to the lung where is reacts with ACE (angiotensin converting enzyme) to produce Angiotensin 2. this travels to the adrenal gland were it forms Aldosterone. This affects the kidneys heart and arteries to raise blood pressure.
