Publications by authors named "D M Faust"

Article Synopsis
  • Porphyria cutanea tarda (PCT) is a skin condition primarily caused by defects in the liver enzyme uroporphyrinogen decarboxylase (UROD), with type 1 PCT being the more common form associated with risk factors like alcohol use, liver disease, and hormonal therapy.
  • A case study describes an elderly man with PCT who has risk factors including heavy alcohol and tobacco use, along with a novel genetic mutation affecting UROD function.
  • The identified mutation, c.224 G>C; p. Arg 75 Pro, was shown to significantly reduce UROD enzyme activity by 50%, suggesting it is a pathogenic factor contributing to the patient's condition.
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Tert-butyl hydroperoxide (t-BuOOH) is an organic hydroperoxide widely used as a model compound to induce oxidative stress. It leads to a plethora of cellular damage, including lipid peroxidation, DNA double-strand breaks (DNA DSBs), and breakdown of the mitochondrial membrane potential (MMP). We could show in several cell lines that t-BuOOH induces ferroptosis, triggered by iron-dependent lipid peroxidation.

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Marine pollution by trace elements is a global concern due to potential toxicity to species and ecosystems. Copper is a fundamental trace element for many organisms; however, it becomes toxic at certain concentrations. The green turtle (Chelonia mydas) is a good sentinel species, due to its circumglobal distribution, long life cycle, coastal habits when juvenile, and is subject to environmental pollution.

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Neuropsychologists' conclusions and courtroom testimony on malingering can have profound impact. Intensive and ingenious research has advanced our capacities to identify both insufficient and sufficient effort and thus make worthy contributions to just conflict resolution. Nevertheless, given multiple converging factors, such as misleadingly high accuracy rates in many studies, practitioners may well develop inflated confidence in methods for evaluating effort/malingering.

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A 47-year-old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5-aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran. She has had normal liver tests, mildly decreased renal function, and sustained normal urinary ALA, PBG, and porphyrins with no rebound in her laboratory test results throughout treatment. She continues to tolerate monthly givosiran injections with no adverse effects, but she still experiences what she believes are acute porphyric attacks every 1-2 months.

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