MSRA Flashcards
(58 cards)
Features of William’s syndrome?
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Features of Cri Du Chat Syndrome?
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
What is the genetic alteration which causes Cri Du Chat syndrome?
Chromosome 5p deletion
Features of Prader- Willi Syndrome?
Hypotonia
Hypogonadism
Obesity
Features of Pierre- Robin Syndrome?
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Features of Noonan Syndrome?
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Features of Fragile X Syndrome?
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Features of Edward’s syndrome
Trisomy 18
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Features of Patau Syndrome?
Trisomy 13
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
What is a common complication of small cell lung cancer?
SIADH
Which type of lung cancer is the most common in non smokers?
Adenocarcinoma
What is carcinoid syndrome?
Carcinoid syndrome is characterised by flushing, diarrhoea, and bronchospasm due to the release of serotonin and other vasoactive substances. It is a complication of lung carcinoma which is a large and slow growing neuroendocrine tumour
Which endocrine abnormality can you get in squamous cell carcinoma of the lung?
Hypercalcaemia due to parathyroid hormone related peptide secretion
What is the science of SIADH?
which leads to water retention, volume expansion, and dilutional hyponatraemia
ADH is produced by the hypothalamus and stored in the posterior pituitary gland. Its primary function is to regulate the body’s water balance
It does this by increasing water reabsorption in the collecting ducts of the kidneys, thereby decreasing the volume of urine produced
In SIADH, there is an inappropriate and continuous release of ADH that is not inhibited by normal physiological mechanisms, such as adequate or excess body fluid levels
As a result, the kidneys reabsorb more water, leading to decreased urine output, and expansion of extracellular fluid volume.
Importantly, this increase in body fluid volume does not lead to the expected signs of fluid overload, such as oedema or hypertension, because the excess fluid is uniformly distributed throughout all body fluid compartments.
Which portions of the bowel are most effected in coeliac disease?
Jejunum and duodenum
Which test is used to diagnose Chlamydia?
nucleic acid amplification test (NAAT)
What are the Chlamydia partner identification rules?
Chlamydia - partner notification:
symptomatic men: all partners from the 4 weeks prior to the onset of symptoms
women + asymptomatic men: all partners from the last 6 months or the most recent sexual partner
What are the FBC/ Coag findings for antiphospholipid syndrome?
Low platelets and high APTT
Which other condition is antiphospholipid syndrome often secondary to?
SLE
What is the management of antiphospholipid syndrome?
Primary thromboprophylaxis (aspirin) or secondary (DOAC vs Warfarin)
What are the rules for anti-coagulation for VTE?
3 months of anticoagulation if there is a cause such as surgery, 6 months if unprovoked
What is the diagnostic tool for lyme disease?
ELISA test
What is the antibiotic management for lyme disease
Doxycyline
Which classes of drugs can be used to prevent angina attacks?
Beta blocker or calcium channel blocker (if asthmatic). Must be a rate limiting CCB (such as verapamil or diltiazem) because non rate limiting CCB (such as amlodipine) can cause rebound tachycardia
