Panic Mode COPY Flashcards
When might a family have lynch syndrome?
- Several members of your family have had colon cancer (3 or more)
- Several members of the family have had colon, womb or ovarian cancer
- You or a relative has had colon cancer at a young age (below 50)
- Tests on cancer tissue from someone in the family have suggested lynch syndrome
What is the pathogenesis of lynch syndrome?
Mismatch repair gene is mutated
Usually respnsible for repairing damage to our cells - protecting us from cancer
Lynch means mismatch repair gene is altered - so cannot do it’s job properly - risk of developing certain cancers
What is the inheritance pattern?
Autosomal dominant
(50% chance of inheritance)
What is the risk of cancer associated with lynch syndrome?
Lifetime risk of bowel cancer is 50-80% (reduced after screening)
Lifetime risk of endometrial cancer is 30-60%
Ovarian cancer is 10%
Other cancer risks as well such as renal cancer, stomach cancer and urinary tract cancer.
What is the cancer screening associated with lynch
Bowels checked every two years from age of 25
Endometrial and ovarian screening begins at age of 30-35
Endometrial cancer - ultrasound scan - also involves taking samples
Ovarian cancer - blood test CA125
(some women chose to have a hysterectomy to reduce risk of cancer)
Advice for colonoscopy
Strong laxitive
Camera the same width as finger
Mild sedation
Can go home after on the same day
What are the benefits of bowel screening?
Detect cancers when they are more treatable
Polyps can be removed - some polyps can develop into cancers
What is the relevant safety net advice for lynch syndrome?
Unexplained tiredness
Unusual bowel symptoms (blood in stool, passing mucus, change in bowel habit)
Weight loss
Unusual bleeding or discharge from the womb
If anyone in the family develops any cancers or polyps please let us know so we can update our advice
There is no cure
When is amniocentesis offered?
- an antenatal screening test has suggested your baby may be born with a condition, such as Down’s syndrome, Edwards’ syndrome or Patau’s syndrome
- you have had a previous pregnancy that was affected by a genetic condition
- you have a family history of a genetic condition, such as sickle cell disease, thalassaemia, cystic fibrosis or muscular dystrophy.
How is amniocentesis performed?
Carried out between weeks 15-20 (later if necessary)
(It can be performed earlier, but this may increase the risk of complications of amniocentesis and is usually avoided.)
- During the test, a long, thin needle is inserted through your abdominal wall, guided by an ultrasound image.
- The needle is passed into the amniotic sac that surrounds the foetus and a small sample of amniotic fluid is removed for analysis.
- The test itself usually takes about 10 minutes, although the whole consultation may take about 30 minutes.
- Amniocentesis is usually described as being uncomfortable rather than painful.
- Some women describe experiencing a pain similar to period pain or feeling pressure when the needle is taken out.
When do you get results for amniocentesis?
The first results of the test should be available within 3 working days and will tell you whether Down’s syndrome, Edwards’ syndrome or Patau’s syndrome has been discovered.
If rarer conditions are also being tested for, it can take 3 weeks or more for the results to come back.
How do you inform someone about the potential results of amniocentesis?
- If your test shows that your baby has a genetic or chromosomal condition, the implications will be fully discussed with you.
- There’s no cure for most of the conditions amniocentesis finds, so you’ll need to consider your options carefully.
- You may choose to continue with your pregnancy, while gathering information about the condition so you’re fully prepared.
Antenatal Results and Choices (ARC), a charity that offers information, advice and support on all issues related to screening during pregnancy.
What are the risks of amniocentesis?
Miscarriage 1/100 chance
Infection
Needing to have the procedure again
What is an alternative to amniocentesis?
- An alternative to amniocentesis is a test called chorionic villus sampling (CVS).
- This is where a small sample of cells from the placenta, the organ that links the mother’s blood supply with her unborn baby’s, is removed for testing.
- It’s usually carried out between the 11th and 14th weeks of pregnancy, although it can be performed later than this if necessary.
- With CVS, the risk of miscarriage is similar to the risk of miscarriage for amniocentesis (up to 1 out of every 100).
- As the test can be carried out earlier, you’ll have more time to consider the results.
What are the symptoms of carpal tunnel?
pain/pins and needles in thumb, index, middle finger unusually the symptoms may ‘ascend’ proximally patient shakes his hand to obtain relief, classically at night
What are the clinical signs of carpal tunnel?
- Thenar muscle wasting
- Poor sensation over the thenar eminence
- Hand of benediction when patient tries to make a fist.
- Weakness in thumb abduction
- Phalens and Tinels positive
Hand of benediction is seen when the patient is asked to make a fist and the ring and little finger flex but the index and middle finger can not flex at the metacarpal-phalangeal joint or interphalangeal joint.
What is the sensory distribution of the median nerve?
What are the potential causes of carpal tunnel?
idiopathic pregnancy oedema e.g. heart failure lunate fracture rheumatoid arthritis
What is the relevant investiagtion for carpal tunnel?
EMG (electromyography)
What is the treatment for carpal tunnel?
Wrist splint
Steroid injection
Surgical release
When is claw hand visible?
At rest
What causes DKA?
DKA is caused by uncontrolled lipolysis (not proteolysis) which results in an excess of free fatty acids that are ultimately converted to ketone bodies
What are the most common precipitating factors for DKA?
Infection
Missued insulin
MI
What are the features of DKA?
abdominal pain
polyuria, polydipsia, dehydration
Kussmaul respiration (deep hyperventilation)
Acetone-smelling breath (‘pear drops’ smell)
What are the diagnostic criteria for DKA?
glucose > 11 mmol/l or known diabetes mellitus
pH < 7.3
bicarbonate < 15 mmol/l
ketones > 3 mmol/l or urine ketones ++ on dipstick
What are the four domains of treatment for DKA?
- Fluid replacement
- Insulin
- Correction of electrolyte disturbance
- Long-acting insulin should be continued, short-acting insulin should be stopped
What are the principles of fluid management in DKA?
most patients with DKA are deplete around 5-8 litres
isotonic saline is used initially, even if the patient is severely acidotic
Please note that slower infusion may be indicated in young adults (aged 18-25 years) as they are at greater risk of cerebral oedema.
Please see JBDS example of fluid replacement regime for patient with a systolic BP on admission 90mmHg and over, (mnemonic = 122446)
What are the principles of insulin therapy in DKA?
an intravenous infusion should be started at 0.1 unit/kg/hour
once blood glucose is < 15 mmol/l an infusion of 5% dextrose should be started
What are the principles of correction of electrolyte disturbance in DKA?
- serum potassium is often high on admission despite total body potassium being low
- this often falls quickly following treatment with insulin resulting in hypokalaemia
- potassium may therefore need to be added to the replacement fluids
- if the rate of potassium infusion is greater than 20 mmol/hour then cardiac monitoring may be required
When is DKA defined as having been resolved?
pH >7.3 and
blood ketones < 0.6 mmol/L and
bicarbonate > 15.0mmol/L
both the ketonaemia and acidosis should have been resolved within 24 hours. If this hasn’t happened the patient requires senior review from an endocrinologist
if the above criteria are met and the patient is eating and drinking switch to subcutaneous insulin
the patient should be reviewed by the diabetes specialist nurse prior to discharge
What are the potential complications of DKA?
Complications may occur from DKA itself or the treatment:
- gastric stasis
- thromboembolism
- arrhythmias secondary to hyperkalaemia/iatrogenic hypokalaemia
- iatrogenic due to incorrect fluid therapy: cerebral oedema*, hypokalaemia, hypoglycaemia
- acute respiratory distress syndrome
- acute kidney injury
What are the requirements for maintenance fluids?
- 25-30 ml/kg/day of water and
- approximately 1 mmol/kg/day of potassium, sodium and chloride and
- approximately 50-100 g/day of glucose to limit starvation ketosis
So, for a 80kg patient, for a 24 hour period, this would translate to:
2 litres of water
80mmol potassium
0.9% saline
if large volumes are used there is an increased risk of hyperchloraemic metabolic acidosis
Hartmann’s
contains potassium and therefore should not be used in patients with hyperkalaemia
What is the screening for downs syndrome?
You will be offered a screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome between 10 and 14 weeks of pregnancy. This is to assess your chances of having a baby with one of these conditions.
Doesn’t say for sure! You need follow up tests afterwards (amniocentesis and CVS)
Combined test
A screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome is available between weeks 10 and 14 of pregnancy. It’s called the combined test because it combines an ultrasound scan with a blood test. The blood test can be carried out at the same time as the 12-week scan.
If you choose to have the test, you will have a blood sample taken. At the scan, the fluid at the back of the baby’s neck is measured to determine the “nuchal translucency”. Your age and the information from these 2 tests are used to work out the chance of the baby having Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.
Obtaining a nuchal translucency measurement depends on the position of the baby and is not always possible. If this is the case, you will be offered a different blood screening test, called the quadruple test, when you’re 14 to 20 weeks pregnant.
Quadruple blood screening test
If it was not possible to obtain a nuchal translucency measurement, or you’re more than 14 weeks into your pregnancy, you’ll be offered a test called the quadruple blood screening test between 14 and 20 weeks of pregnancy. This only screens for Down’s syndrome and is not as accurate as the combined test.
Important information for downs screening:
The screening test will not tell you whether your baby does or does not have Down’s, Edwards’ or Patau’s syndromes – it will tell you if you have a higher or lower chance of having a baby with one of these conditions.
You don’t need to have the screening, you can still get other tests such as the 12 week scan. Physical conditions may be picked up later in the pregnancy at future scan. The person performing the scan will always tell you if conditions are found.
You will be offered an appointment to discuss the test results and the options you have.
The charity Antenatal Results and Choices (ARC) offers lots of information about screening results and your options if you get a higher-chance result.
You may decide to continue with the pregnancy and prepare for your child with the condition.
Or you may decide that you do not want to continue with the pregnancy and have a termination.
If you are faced with this choice, you will get support from health professionals to help you make your decision.
What is involved in the combined test?
nuchal translucency measurement + serum B-HCG + pregnancy-associated plasma protein A (PAPP-A)
Down’s syndrome is suggested by ↑ HCG, ↓ PAPP-A, thickened nuchal translucency
trisomy 18 (Edward syndrome) and 13 (Patau syndrome) give similar results but the PAPP-A tends to be lower
What is involved in the quadruple test?
AFP
Unconjugated Oestriol
HCG
Inhibin A
What are the areas to cover for suicidal risk?
EPPMANDI Help help
Self-harm/suicide before?
Mood
Psychosis
When is post-exposure prophylaxis started if there are concerns RE HIV?
a combination of oral antiretrovirals (e.g. Tenofovir, emtricitabine, lopinavir and ritonavir) as soon as possible (i.e. Within 1-2 hours, but may be started up to 72 hours following exposure) for 4 weeks
When is serological testing performed after HIV exposure?
serological testing at 12 weeks following completion of post-exposure prophylaxis
reduces risk of transmission by 80%
What is the risk of transmission for single needlestick injury?
What medication is give for Hep B exposure?
Vaccinated already = Booster dose of vaccine
Non-responder = hep B immune globulin plus vaccine
What is post-exposure prophylaxis for Hep A?
Human Normal Immunoglobulin (HNIG) or hepatitis A vaccine may be used depending on the clinical situation
What is post-exposure prophylaxis for hep C?
monthly PCR - if seroconversion then interferon +/- ribavirin
In what percentage of patients is HIV seroconversion symptomatic?
60-80%
When does HIV seroconversion happen?
3-12 weeks after infection
What are the features of HIV seroconversion?
- sore throat
- lymphadenopathy
- malaise, myalgia, arthralgia
- diarrhoea
- maculopapular rash
- mouth ulcers
- rarely meningoencephalitis
What is driving advice for type 1 diabetes
Driving advice for type 1 diabetes:
If you have had more than 1 hypo in the last 12 months you must not drive and inform the DVLA
If you have had a hypo in the last 12 months you must not drive a lorry and you must notify the DVLA of every severe episode of hypoglycaemia
If severe hypoglycaemia occurs whilst driving - stop driving and inform the DVLA
Keep glucose treatments in car
Check blood glucose before driving and every two hours
Blood glucose should be more than 5 in order for you to drive
What does diabetic retinopathy look like
microaneurysms
blot/flame haemorrhages
hard exudates
mottled mess of fine vesscotton wool spots
venous beading/looping/dilation
silver wiring
neovascularisation (irregular vessels that are fragile and leak) - mottled mess of fine vessels
What scan looks for macular oedema (sign of diabetic retinopathy)?
Optical coherence tomography
or
fluorescin angiography
What causes hard exudates?
Retinal oedema - develop at junction between normal and swollen retina
Made up of lipoprotiens and lipid filled macrophages
Hard exudates - yellow in colour - found close to the macula, distinct margins, result from blood vessel leakage
Cotton wool spots are made from axonal debris - found close to the optic nerve - lighter in colour, margins are less distinct. Result from vessel occlusion as opposed to vascular leakage
Good youtube video
https://www.youtube.com/watch?v=IWspTG9wIsU&ab_channel=MeriVukicevicMeriVukicevic
What is rubeoisis?
Neovasculariation at the Irirs
What does NVD stand for?
Neovascularisation of the optic disc
What are the possible treatments for diabetic retinopathy?
Laser photocoagulation
Anti-vegf
Some patients with a lot of blood in the vitreous may require a vitrectomy
What are the signs of papilloedema?
Advice for patients before, during and after eye screening?
Before:
- Don’t drive to appointment
- Bring glasses, contact lenses/solution
- Bring sunglasses
- Eat and drink as normal
During:
- You’ll be asked to read some letters on a chart first.
- Drops are then put in your eyes. These may sting for a few seconds. The drops make your sight blurry after about 15 minutes.
- When the drops start working, you’ll be asked to look into a camera. The camera will not touch your eyes.
- Pictures are taken of the back of your eyes. There will be a bright flash when a picture is taken.
After:
- You can go home when the test is finished.
- For up to 6 hours after the test:
- your sight may be blurry – do not drive until it goes back to normal
- everything can look very bright – wearing sunglasses can help
- You will not get your test result on the day.
- You’ll get a letter about your result within 6 weeks.
What is the screening test for diabetic retinopathy?
Fundus photography
Slit lamp biomicroscopy (when photos are not suitable for the individual)
Optical coherence tomography - if concerns of macular oedema
What smoking cessation services are available on the NHS?
Stop smoking services staffed by expert advisers - one-to-one sessions or group services
On your first session you can discuss why you smoke why you want to stop, decide on a quit date. You don’t have to be sure about wanting to quit smoking when you attend.
On first session they will also take a breath test - carbon monoxide in your body. Measuring carbon monoxide levels isn’t about checking up on you. It’s more to motivate you to stay smoke-free by showing how your body is already recovering
Also medical therapy available on the NHS:
Nicotine replacement therapy works out as a third of the price as the local pharmacy
These are nicotine replacement products (including patches, gum, lozenges, inhalators and mouth and nasal sprays) and the stop smoking tablets Champix (varenicline) and Zyban (bupropion).
What are some causes of macrocephaly
Fragile X
Noonans
Intraventricular haemorrhage
Hydrocephalus (non-communicating = arnold chiari, aqueductal stenosis, dandy walker)
What might cause congenital microcephaly?
Edward
Patau
Downs
Infections:
Congenital cytomegalovirus infection
Toxoplasmosis
Congenital rubella syndrome
Congenital Varicella Syndrome
Zika virus
Foetal alcahol syndrome
Maternal hypothyroidism/malnutrition/placental insufficiency
What fracture is this?
Colles
complete fracture of the radius bone of the forearm close to the wrist resulting in an upward (posterior) displacement of the radius and obvious deformity
The fracture originates from a fall on the outstretched hand and is usually associated with dorsal and radial displacement of the distal fragment, and disturbance of the radial-ulnar articulation
Colles’ fracture is defined as a linear transverse fracture of the distal radius approximately 20-35 mm proximal to the articular surface with dorsal angulation of the distal fragment
Radial styloid process comes to lie at same level or a little higher than the ulnar styloid process
COMMONLY SEEN IN THE ELDERLY = PEOPLE WITH OSTEOPOROSIS
Which nerve palsies correspond to these eye changes?
3,4,6
What does the fourth cranial nerve do?
Supplies superior oblique
superior oblique is responsible for abduction (directed laterally from the nose), depression (inferiorly) and internal rotation (movement of the superior pole of the eye medially) of the eyeball
Don’t focus too much on the arrows on the picture below (they appear to show slight adduction, but superior oblique does abduction)
Management for clinically unstable NSTEMI?
Give up to three doses of translingual/sublingual glyceryl trinitrate before considering an intravenous glyceryl trinitrate infusion
Anticoagulation = heparin
How to manage clinically stable NSTEMI?
Anticoagulation = fondaparinux first line (2.5 mg subcutaneously once daily for up to 8 days (or hospital discharge if sooner))
What is the long-term drug therapy after an MI?
What are causes of abdominal pain?
What are the lymph node groups of the axilla
AP vs PA
Curb 65
NICE recommend, in conjunction with clinical judgement:
consider home-based care for patients with a CURB65 score of 0 or 1 - low risk (less than 3% mortality risk)
consider hospital-based care for patients with a CURB65 score of 2 or more - intermediate risk (3-15% mortality risk)
consider intensive care assessment for patients with a CURB65 score of 3 or more - high risk (more than 15% mortality risk)
Management of low-severity community acquired pneumonia
amoxicillin is first-line
if penicillin allergic then use a macrolide or tetracycline
NICE now recommend a 5 day course of antibiotics for patients with low severity community acquired pneumonia
Management of moderate and high-severity community acquired pneumonia
dual antibiotic therapy is recommended with amoxicillin and a macrolide
a 7-10 day course is recommended
NICE recommend considering a beta-lactamase stable penicillin such as co-amoxiclav, ceftriaxone or piperacillin with tazobactam and a macrolide in high-severity community acquired pneumonia
CHF on CXR
- Alveolar oedema (perihilar/bat-wing opacification)
- Kerley B lines (interstitial oedema)
- Cardiomegaly (cardiothoracic ratio >50%)
- Dilated upper lobe vessels
- Effusions (e.g. pleural effusions – blunted costophrenic angles)
What are the features of alcohol dependence?
What is the cage questionaire?
What is the SCOFF questionnaire?
