Browsing by Author "Berman, Peter"

Now showing 1 - 4 of 4
  • Thumbnail Image
    Item
    Open Access
    Design and prototype of an external quality assurance program for urine bicarbonate
    (2011) Benjamin, Ryan; King, Jackie; Berman, Peter
    This dissertation validates a Beckman-Coulter DxC(R) assay for total bicarbonate in urine and then proceeds to design, prototype and cost an inter-laboratory comparison (ILC) program for the above urine bicarbonate based on the validation. Furthermore, this work serves as a case study for how to establish proficiency testing - and thereby achieve accreditation - for tests without external quality assurance because of analyte instability.
  • Thumbnail Image
    Item
    Open Access
    Megaloblastic anaemia, diabetes and deafness in a 2-year old child
    (2005) Davidson, Alan; Hartley, Patricia S; Berman, Peter; Shuttleworth, Margaret H G
    Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child.
  • Thumbnail Image
    Item
    Open Access
    Megaloblastic anaemia, diabetes and deafness in a two-year old child
    (2005) Davidson, Alan; Hartley, Patricia S; Berman, Peter; Shuttleworth, Margaret H G
    Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child.
  • Thumbnail Image
    Item
    Open Access
    Molecular characterisation of acute intermittent porphyria in South Africa
    (2014) Fortgens, Philip Hendrik; Meissner, Peter; Corrigall, Anne; Berman, Peter; Pillay, Tahir
    Acute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an understanding of the molecular basis of AIP in South Africa, and provide a platform for the screening of family members of affected patients. Identification of latent carriers would allow for education with respect to precipitants and how best to avoid them, so as to minimise the risk of provoking an acute attack.