The iron paradox: a case of acaeruloplasminaemia.
نویسندگان
چکیده
Acaeruloplasminaemia is a rare neurodegenerative disorder in which dysfunction of the caeruloplasmin gene results in brain iron accumulation alongside systemic iron overload. We discuss the case of a 53-year-old male who presented to neurology with a 4-year history of progressive neuropsychiatric symptoms and was eventually diagnosed with this condition. We discuss the characteristic clinical features and supporting laboratory and radiological findings as well as clinical pointers to help differentiate it from other conditions which might cause diagnostic confusion.
منابع مشابه
Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients.
Acaeruloplasminaemia is characterized by excessive neurovisceral iron accumulation due to mutation of the caeruloplasmin gene. Excess iron functions as a potent catalyst of biological oxidation, and increased iron concentration is associated with the products of lipid peroxidation in the serum and cerebrospinal fluid. We investigated whether the amount of iron accumulated paralleled lipid perox...
متن کاملSolving the Paradox of Multiple IRR\'s in Engineering Economic Problems by Choosing an Optimal -cut
Until now single values of IRR are traditionally used to estimate the time value of cash flows. Since uncertainty exists in estimating cost data, the resulting decision may not be reliable. The most commonly cited drawbacks to using the internal rate of return in evaluatton of deterministic cash flow streams is the possibility of multiple conflicting internal rates of return. In this paper we p...
متن کاملBertrand’s Paradox Revisited: More Lessons about that Ambiguous Word, Random
The Bertrand paradox question is: “Consider a unit-radius circle for which the length of a side of an inscribed equilateral triangle equals 3 . Determine the probability that the length of a ‘random’ chord of a unit-radius circle has length greater than 3 .” Bertrand derived three different ‘correct’ answers, the correctness depending on interpretation of the word, random. Here we employ geomet...
متن کاملThe Paradox of Health Policy: Revealing the True Colours of This ‘Chameleon Concept’; Comment on “The Politics and Analytics of Health Policy”
Health policy has been termed a ‘chameleon concept’, referring to its ability to take on different forms of disciplinarity as well as different roles and functions. This paper extends Paton’s analysis by exploring the paradox of health policy as a field of academic inquiry—sitting across many of the boundaries of social science but also marginalised by them. It situates contemporary approaches ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The journal of the Royal College of Physicians of Edinburgh
دوره 47 2 شماره
صفحات -
تاریخ انتشار 2017