A Man with Recurrent Fractures and Foot Pain

Sodi, Ravinder; Hall, David J.

doi:10.1373/clinchem.2017.275628

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…15 • Bone-related disorders such as hypophosphatasia, a condition that presents with low alkaline phosphatase (ALP) and is known to be a commonly missed diagnosis. 16 …”

Section: Yet Another Role For the Clinical Biochemistmentioning

confidence: 99%

“…15 • Bone-related disorders such as hypophosphatasia, a condition that presents with low alkaline phosphatase (ALP) and is known to be a commonly missed diagnosis. 16 This list is by no means exhaustive. As more variants of clinical significance are linked to various common disorders, requests for testing are likely to increase in the very near future.…”

Section: Yet Another Role For the Clinical Biochemistmentioning

confidence: 99%

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Finding the broken helix: The mainstreaming of genomic medicine into clinical biochemistry

Sodi

2022

Ann Clin Biochem

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It was a frightening and confusing year', says sixteen-yearold Michelle, whose mother had recently been diagnosed with breast cancer. Earlier in the same year, her grandmother had succumbed to the same illness. 'My sister and I had heard that there were tests available to screen for cancer but there was confusion about what the results meant and whether it was better to know the results', she said. Her sister Lucy was more stoical. 'It is better to know if you are at risk or affected so that you can prepare yourself'. Unlike her sister, Lucy believed to be forewarned was to be better prepared. 'When I decided to have the test done I wasn't going to coerce my sister into having it too', she said, 'but I was frightened with the prospect of having to spend the rest of my life, if found to be positive, with the anxiety of impending doom' This is one typical scenario when it comes to screening for all kinds of diseases. When is it ethical to have such tests? Does a young person have a right to such tests? Many misunderstandings abound about the validity and veracity of tests offered by commercial organisations looking to make a 'fast buck' at the expense of the 'worried well'. The renowned Hollywood actor Angelina Jolie sums it up well when she says, 'Once I knew that this was my reality, I decided to be proactive and to minimise the risks as much as I could'. 1 It is well known that Angelina had a preventative double mastectomy.

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“…15 • Bone-related disorders such as hypophosphatasia, a condition that presents with low alkaline phosphatase (ALP) and is known to be a commonly missed diagnosis. 16 …”

Section: Yet Another Role For the Clinical Biochemistmentioning

confidence: 99%

Section: Yet Another Role For the Clinical Biochemistmentioning

confidence: 99%