A 6-year-old boy is referred to clinic due to recurrent renal calculi. His grandmother also had a similar problem.
What is the most likely diagnosis?
Correct Answer D:
Cystinuria:
Cystinuria is an autosomal recessive disorder characterised by the formation of recurrent renal stones. It is due to a defect in the membrane transport of cystine, ornithine, lysine, arginine (mnemonic = COLA).
Genetics:
Features:
Diagnosis:
Management:
A follow-up study is performed looking at the height of 100 adults who were given steroids during childhood. The average height of the adults is 169cm, with a standard deviation of 16cm.
What is the standard error of the mean?
Standard error of the mean = standard deviation / square root (number of patients)
The standard error of the mean is calculated by the standard deviation / square root (number of patients) = 16 / square root (100) = 16 / 10 = 1.6
Standard error of the mean:
The standard error of the mean (SEM) is a measure of the spread expected for the mean of the observations - i.e. how 'accurate' the calculated sample mean is from the true population mean.
Key point:
Therefore the SEM gets smaller as the sample size (n) increases.
A confidence interval for the mean can be calculated in a similar way to that for a single observation, i.e. The 95% confidence interval:
You are a ST1 doctor working on the medical admissions unit. You are currently working for a locum consultant with whom you have a good working relationship. However, both you and the nurses are concerned regarding the some of the management decisions and inappropriate discharges.
What is the most appropriate action?
Correct Answer E:
Concerns about the performance of a more senior colleague are difficult to handle. The most important thing is not to ignore the situation. One of the advantages of speaking to the medical director is that he/she may already have concerns regarding their performance. Your comments may provide further 'evidence' on which action may be taken.
Speaking directly to the locum consultant is a possibility. He may take the attitude that given the concerns of both the medical and nursing staff it is appropriate to discuss his performance with his colleagues. It is however possible that he could become very defensive and try to stonewall you.
Filling a clinical incident form would hopefully trigger management to take action but it would take time before any action or decisions are made.
Asking the nurses to put all the poorly or complex patients under a different consultant may seem attractive as it may minimize harm but it does not tackle the underlying problem and puts other patients potentially at risk from an underperforming doctor.
Phoning the local newspaper is unprofessional, unlikely to result in a speedy resolution and will uniformly decrease local confidence in the department.
Which one of the following features is characteristic of acute intermittent porphyria?
Correct Answer B:
Acute intermittent porphyria:
Acute intermittent porphyria (AIP) is a rare autosomal dominant condition caused by a defect in porphobilinogen deaminase, an enzyme involved in the biosynthesis of haem. The results in the toxic accumulation of delta aminolevulinic acid and porphobilinogen. It characteristically presents with abdominal and neuropsychiatric symptoms in 20-40 year old. AIP is more common in females (5:1).
Features:a
A man with glucose-6-phosphate dehydrogenase deficiency asks for advice regarding his son.
What is the chance his son will also develop the disease?
X-linked recessive conditions - no male-to-male transmission.
X-linked recessive:
In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner's syndrome, who are affected due to only having one X chromosome. X linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.
Each male child of a heterozygous female carrier has a 50% chance of being affected whilst each female child of a heterozygous female carrier has a 50% chance of being a carrier.
The possibility of an affected father having children with a heterozygous female carrier is generally speaking extremely rare. However, in certain Afro-Caribbean communities G6PD deficiency is relatively common and homozygous females with clinical manifestations of the enzyme defect are seen.
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