Publications by authors named "Alice Rudd"
Background: Hyaluronic acids (HAs) continue to be the fillers of choice worldwide and their popularity is growing. Adverse events (AEs) are able to be resolved through the use of hyaluronidase (HYAL). However, routine HYAL use has been at issue due to perceived safety issues.
View Article and Find Full Text PDFBackground: The pathogenesis of delayed-onset tissue nodules (DTNs) due to hyaluronic acid (HA) injections is uncertain.
Objectives: To formulate a rational theory for DTN development and their avoidance and treatment.
Methods: A multidisciplinary and multicountry DTN consensus panel was established, with 20 questions posed and consensus sought.
Background: Hyaluronic acid fillers have a satisfactory safety profile. However, adverse reactions do occur, and rarely intravascular injection may lead to blindness. Currently there is no internationally recognized consensus on the prevention or management of blindness from hyaluronic acid filler.
View Article and Find Full Text PDFThe porphyrias are a group of inherited disorders that result in defects in the enzymes of the haem biosynthetic pathway, causing photosensitive bullous skin eruptions or abdominal and neurological attacks. Enzymatic defects result in specific porphyrin excretory patterns that are diagnosed biochemically and can be confirmed by genetic testing. Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria.
View Article and Find Full Text PDFArticle Synopsis
- Frameshift mutations in the ALAS2 gene lead to increased enzyme activation, resulting in elevated levels of protoporphyrin in patients with X-linked dominant protoporphyria (XLDPP).
- In a study of four new XLDPP families, researchers discovered two novel mutations alongside a known one, suggesting a broader mutation spectrum and the role of mosaicism in the prevalence of the delAGTG mutation.
- The study proposes a large gain-of-function domain in the C-terminus of ALAS2, with experiments confirming a specific region that regulates enzymatic activity, which is proposed to be inhibited through its own C-terminus.
Multicentric reticulohistiocytosis (MRH), a rare histiocytic systemic condition characterized by mutilating arthritis and multiple cutaneous nodules, has been associated with malignancy including that of the breast, thyroid and colon. An unsubstantiated link with infectious agents such as mycobacterium tuberculosis has been described. Many treatments have been used with varying success.
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