Each one of the following is seen in Wiskott-Aldrich syndrome, except:
Correct Answer E:
Wiskott-Aldrich syndrome:
Wiskott-Aldrich syndrome causes primary immunodeficiency due to a combined B- and T-cell dysfunction. It is inherited in a X-linked recessive fashion and is thought to be caused by mutation in the WASP gene.
Features:
Why do patients with chronic kidney disease have a raised phosphate level?
Correct Answer A:
Chronic kidney disease: bone disease: Basic problems in chronic kidney disease:
Several clinical manifestations may result:
1- Osteitis fibrosa cystica
2- Adynamic:
3- Osteomalacia:
4- Osteosclerosis
5- Osteoporosis
Which of the following statements is true regarding the standard polymerase chain reaction (PCR)?
Correct Answer C:
PCR:
Polymerase chain reaction (PCR) is a molecular genetic investigation technique. The main advantage of PCR is its sensitivity: only one strand of sample DNA is needed to detect a particular DNA sequence. It now has many uses including prenatal diagnosis, detection of mutated oncogenes and diagnosis of infections. PCR is also extensively used in forensics. Prior to the procedure it is necessary to have two DNA oligonucleotide primers. These are complimentary to specific DNA sequences at either end of the target DNA.
Initial prep:
The following cycle then takes place:
The above cycle is then repeated, with the amount of DNA doubling each time.
Reverse transcriptase PCR:
Which one of the following statements regarding galactosaemia is incorrect?
Galactosaemia:
Galactosaemia is a rare autosomal recessive condition caused by the absence of galactose-1 phosphate uridyl transferase. This results in intracellular accumulation of galactose-1-phosphate.
Diagnosis:
Management:
Looser's zones x-ray are most characteristically associated with which one of the following conditions?
Osteomalacia:
Basics:
Types:
Investigation:
Treatment:
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