15 results on '"McMeniman EK"'
Search Results
2. Pityriasiform drug eruption associated with venetoclax for acute myeloid leukaemia.
- Author
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Liu TJ and McMeniman EK
- Subjects
- Humans, Male, Aged, Middle Aged, Female, Bridged Bicyclo Compounds, Heterocyclic adverse effects, Bridged Bicyclo Compounds, Heterocyclic therapeutic use, Sulfonamides adverse effects, Leukemia, Myeloid, Acute drug therapy, Drug Eruptions etiology, Drug Eruptions pathology, Antineoplastic Agents adverse effects, Antineoplastic Agents therapeutic use
- Abstract
Venetoclax is a targeted antileukaemic therapy that has emerged as the primary treatment of acute myeloid leukaemia in patients of advanced age or who would otherwise be ineligible for standard chemotherapy. Despite the documented evidence of cutaneous side effects of venetoclax, few reports have clarified presenting cutaneous features beyond the descriptors 'rash' and 'pruritus'. In this report, we describe the development of a pityriasiform drug eruption following venetoclax-based induction therapy for acute myeloid leukaemia. This study provides further evidence to characterise the range of cutaneous adverse events that are associated with venetoclax-based therapy. Further studies are needed to elucidate the epidemiology and pathophysiology of venetoclax-induced cutaneous toxicities., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
3. The impact of hidradenitis suppurativa on quality of life is worse than inflammatory bowel disease and myocardial infarction.
- Author
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Mortimore AM, Bullen A, and McMeniman EK
- Subjects
- Humans, Quality of Life, Cross-Sectional Studies, Chronic Disease, Hidradenitis Suppurativa complications, Inflammatory Bowel Diseases, Myocardial Infarction complications
- Abstract
Quality of life is severely impacted by Hidradenitis Suppurativa. This cross-sectional survey based study highlights that the impact of Hidradenitis Suppurativa on quality of life measured by the World Health Organisation Quality of Life (WHOQOL-BREF) survey is worse than published data for atopic dermatitis and other acute and chronic medical conditions including myocardial infarction and inflammatory bowel disease., (© 2022 Australasian College of Dermatologists.)
- Published
- 2022
- Full Text
- View/download PDF
4. Cross-sectional survey-based study reveals self-diagnosis of hidradenitis suppurativa via Internet search in over 10% of patients.
- Author
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Mortimore AM, Bullen A, and McMeniman EK
- Subjects
- Cross-Sectional Studies, Humans, Internet, Quality of Life, Surveys and Questionnaires, Hidradenitis Suppurativa diagnosis
- Published
- 2022
- Full Text
- View/download PDF
5. Disseminated cutaneous fusariosis in an immunocompetent patient.
- Author
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Kao YC, Stevenson PH, Kong FW, Lee KJ, and McMeniman EK
- Subjects
- Fusarium isolation & purification, Humans, Antifungal Agents therapeutic use, Antineoplastic Agents therapeutic use, Fusariosis diagnosis, Fusariosis drug therapy, Immunocompromised Host
- Published
- 2022
- Full Text
- View/download PDF
6. CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk.
- Author
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McMeniman EK, Peach E, Lee KJ, Yanes T, Jagirdar K, Stark MS, Soyer HP, Duffy DL, McInerney-Leo AM, and Sturm RA
- Subjects
- Age of Onset, Australia epidemiology, Cyclin-Dependent Kinase Inhibitor p16 genetics, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Mutation, Melanoma epidemiology, Melanoma genetics, Skin Neoplasms epidemiology, Skin Neoplasms genetics
- Published
- 2020
- Full Text
- View/download PDF
7. Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
- Author
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Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, and Sturm RA
- Subjects
- Genetic Variation, Germ-Line Mutation, Humans, Point Mutation, Polymorphism, Single Nucleotide, Exome Sequencing, Albinism genetics, Melanoma genetics, Membrane Transport Proteins genetics, Monophenol Monooxygenase genetics, Skin Neoplasms genetics
- Abstract
Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. Exome sequencing was available for 28 individuals with amelanotic/hypomelanotic melanoma and 303 individuals with pigmented melanoma, which were compared to whole exome data from 1144 Australian controls. Microarray genotyping was available for a further 17 amelanotic/hypomelanotic melanoma, 86 pigmented melanoma, 147 melanoma cases (pigmentation unknown) and 652 unaffected controls. Rare deleterious variants in TYR/OCA1 were more common in amelanotic/hypomelanotic melanoma cases than pigmented melanoma cases (set mixed model association tests P = 0.0088). The OCA2 hypomorphic allele p.V443I was more common in melanoma cases (1.8%) than controls (1.0%, X2 P = 0.02), and more so in amelanotic/hypomelanotic melanoma (4.4%, X2 P = 0.007). No amelanotic/hypomelanotic melanoma cases carried an eye and skin darkening haplotype of OCA2 (including rs7174027), present in 7.1% of pigmented melanoma cases (P = 0.0005) and 9.4% controls. Variants in TYR and OCA2 may play a role in amelanotic/hypomelanotic melanoma susceptibility. We suggest that somatic loss of function at these loci could contribute to the loss of tumor pigmentation, consistent with this we found a higher rate of somatic mutation in TYR/OCA2 in amelanotic/hypomelanotic melanoma vs pigmented melanoma samples (28.6% vs 3.0%; P = 0.021) from The Cancer Genome Atlas Skin Cutaneous Melanoma collection., Competing Interests: I have read the journal's policy and the authors of this manuscript have the following competing interests: HPS is a shareholder of MoleMap NZ Limited and e-derm consult GmbH, and undertakes regular teledermatological reporting for both companies. HPS is a Medical Consultant for Canfield Scientific Inc. and MetaOptima Technology Inc., a Medical Advisor for First Derm, and has a Medical Advisory Board Appointment with MoleMap NZ Limited. This does not alter our adherence to PLOS ONE policies on sharing data and materials. The other authors have no conflicts of interest to declare.
- Published
- 2020
- Full Text
- View/download PDF
8. The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls.
- Author
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McMeniman EK, Duffy DL, Jagirdar K, Lee KJ, Peach E, McInerney-Leo AM, De'Ambrosis B, Rayner JE, Smithers BM, Soyer HP, and Sturm RA
- Subjects
- Adult, Aged, Agouti Signaling Protein genetics, Australia epidemiology, Cyclin-Dependent Kinase Inhibitor p16 genetics, Female, Humans, Microphthalmia-Associated Transcription Factor genetics, Purine-Nucleoside Phosphorylase genetics, Queensland, Receptor, Melanocortin, Type 1 genetics, Risk Factors, Melanoma genetics, Skin Neoplasms genetics
- Abstract
Background: Skin phenotype, host genotype and ultraviolet (UV) damage play a role in the development of melanoma., Objectives: To ascertain whether the level of UV damage at the site of melanomas was associated with genetic polymorphisms., Methods: Deep phenotyping was performed on 1244 individuals; 281 with multiple primary melanomas (MPMs), 304 with single primary melanoma (SPM) and 659 convenience controls. Genotype data was generated using the Illumina CoreExome microarray platform, assaying over 500 000 single-nucleotide polymorphisms. A subset of variants were combined to assess a polygenic risk score (PRS) for melanoma., Results: Most MPM cases were diagnosed in patients aged > 40 years, in sites with visible chronic UV damage. Women and those diagnosed at age ≤ 40 years were less likely to have perilesional UV damage. Patients with MPM had higher frequencies of MITF E318K, MC1R R-alleles and the ASIP risk haplotype. Individuals who had melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 [odds ratio (OR) 2·5], 9q31.2 rs10816595 (OR 1·4) and MTAP rs869329 (OR 1·4). These same alleles were more common in patients with MPM who were diagnosed at age ≤ 40 years. The mean PRS was significantly higher in MPM than in SPM and controls. Naevus count was comparable in early-onset MPM cases and those diagnosed at age > 40 years., Conclusions: Our cohort demonstrated higher frequencies of previously reported alleles associated with melanoma. MPM melanomas more commonly occur in UV-damaged areas, and these individuals are more likely to carry MC1R red hair colour alleles. Awareness of the interplay of genetic vulnerability with UV damage can stratify risk and guide recommendations for melanoma screening. What's already known about this topic? Skin phenotype, host genotype and ultraviolet (UV) damage all play a role in melanoma development. One of the main risk factors is a personal history of melanoma; second and subsequent primary melanomas account for over 20% of all melanomas registered in Queensland. Multiple loci are associated with melanoma risk, including many low-penetrance loci, which may have a cumulatively significant risk. Population-wide screening programmes for melanoma are not yet economically viable. What does this study add? Patients diagnosed with melanoma at age ≤ 40 years were more likely than older patients to have melanomas in non-UV-damaged sites. Patients with multiple melanomas had higher frequencies of MITF E318K, MC1R R-alleles, and the ASIP extended risk haplotype than patients with single melanoma. CDKN2A, MC1R and MTAP variants were more frequent in patients who developed melanomas at a younger age, but also in those whose melanomas were all on visibly UV-damaged sites. What is the translational message? Incorporating these genetic findings into the known risk factors of skin phenotype and visible UV damage may allow for a more customized and economically feasible approach to early detection of melanoma, particularly in younger patients. Plain language summary available online., (© 2019 British Association of Dermatologists.)
- Published
- 2020
- Full Text
- View/download PDF
9. The cost of dupilumab treatment for severe atopic dermatitis is largely offset by broader health-care savings and improvement in quality of life.
- Author
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Edwards HA and McMeniman EK
- Subjects
- Australia, Dermatitis, Atopic economics, Humans, Antibodies, Monoclonal, Humanized economics, Antibodies, Monoclonal, Humanized therapeutic use, Dermatitis, Atopic drug therapy, Health Care Costs, Quality of Life
- Published
- 2020
- Full Text
- View/download PDF
10. Genes Determining Nevus Count and Dermoscopic Appearance in Australian Melanoma Cases and Controls.
- Author
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Duffy DL, Jagirdar K, Lee KJ, McWhirter SR, McMeniman EK, De'Ambrosis B, Pflugfelder A, Rayner JE, Whiteman DC, Brown MA, Martin NG, Smithers BM, Schaider H, Soyer HP, and Sturm RA
- Subjects
- Adult, Aged, Australia epidemiology, Case-Control Studies, Dermoscopy statistics & numerical data, Female, Genome-Wide Association Study, Humans, Male, Melanoma diagnostic imaging, Melanoma epidemiology, Middle Aged, Nevus, Pigmented diagnostic imaging, Odds Ratio, Polymorphism, Single Nucleotide, Risk Assessment methods, Risk Factors, Skin Neoplasms diagnostic imaging, Skin Neoplasms epidemiology, Young Adult, Biomarkers, Tumor genetics, Melanoma genetics, Nevus, Pigmented genetics, Skin Neoplasms genetics
- Published
- 2020
- Full Text
- View/download PDF
11. High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.
- Author
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Duffy DL, Lee KJ, Jagirdar K, Pflugfelder A, Stark MS, McMeniman EK, Soyer HP, and Sturm RA
- Subjects
- Adolescent, Adult, Aged, Agouti Signaling Protein genetics, Alleles, Case-Control Studies, Child, Cyclin-Dependent Kinase Inhibitor p16 genetics, Female, Genetic Predisposition to Disease, Genotype, Hair Color genetics, Humans, Male, Mass Screening standards, Melanoma diagnosis, Melanoma genetics, Melanoma prevention & control, Melanosis genetics, Middle Aged, Nevus genetics, Practice Guidelines as Topic, Queensland epidemiology, Risk Factors, Severity of Illness Index, Skin radiation effects, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms prevention & control, Skin Pigmentation genetics, Skin Pigmentation radiation effects, Ultraviolet Rays adverse effects, Young Adult, Melanoma epidemiology, Melanosis epidemiology, Nevus diagnosis, Receptor, Melanocortin, Type 1 genetics, Skin Neoplasms epidemiology
- Abstract
Background: A high total body naevus count is the highest risk factor for melanoma; the phenotype of red hair colour, freckling and pale skin that burns easily, produced by MC1R R alleles, also predisposes to melanoma., Objectives: To determine whether the known melanoma risk factors of high naevus count and red hair or MC1R R alleles act synergistically to increase melanoma risk., Methods: The Brisbane Naevus Morphology Study involved 1267 participants from volunteers presenting at a melanoma unit, dermatology outpatient clinic, private dermatology clinics, the Brisbane Longitudinal Twin Study and the QSkin Study. We examined pigmentation characteristics, total body naevus ≥ 5 mm count, and MC1R, ASIP and CDKN2A genotype in participants with and without a personal history of melanoma, living in Queensland, Australia, which is an area of high ultraviolet radiation., Results: Cases were older than controls (median 57 vs. 33 years). Compared with individuals with dark brown hair and zero to four naevi, individuals with red hair and ≥ 20 naevi had a melanoma odds ratio of 10·0 (95% confidence interval 4·2-24·3). Individuals with MC1R R/R genotype and ≥ 20 naevi (≥ 5 mm diameter) had a melanoma odds ratio of 25·1 (95% confidence interval 8·4-82·7) compared with wild-type (WT)/WT individuals with zero to four naevi. The highest risk group is Australian men with the MC1R R/R genotype and ≥ 20 moles, who have an absolute risk of melanoma to age 75 years of 23·3%, compared with 0·8% for men with the WT/WT genotype and zero to four naevi., Conclusions: Patients who live in areas of high ultraviolet radiation, and have many large naevi and the red hair colour phenotype, particularly those with the MC1R R/R genotype, have a high risk of melanoma above the threshold recommended for screening in other cancers. Therefore, they should undergo intensive physician-led surveillance. What's already known about this topic? A high number of acquired melanocytic naevi, the red hair phenotype and MC1R R alleles all independently increase melanoma risk. Women with atypical naevi have an increasing melanoma risk gradient from darker hair to lighter hair. Women with many naevi have an increasing melanoma risk gradient from those with no elements of the red hair phenotype, to those with freckles but not red hair, to those with red hair. What does this study add? In Queensland, Australia, people with ≥ 20 naevi (≥ 5 mm diameter) and MC1R R/R genotype have a 25-fold increased melanoma risk, relative to people with zero to four naevi and the MC1R WT/WT genotype. In Queensland, individuals with ≥ 20 naevi and the MC1R R/R genotype have an absolute melanoma risk to age 75 years of 23·3% for men and 19·3% for women. This effect is independent of CDKN2A genotype. Further research is required to determine the effect of areas of lower ultraviolet radiation, as this study took place in the Queensland, Australia, which is an area of high ultraviolet radiation. MC1R R/r genotype is associated with increased total body naevus count but this is not the case for R/R. What is the translational message? Patients with many large naevi and the red hair colour phenotype, particularly those with an MC1R R/R genotype, have an unusually high risk of melanoma. In a high ultraviolet environment, this risk exceeds the threshold recommended for screening in other cancers, and such individuals should undergo intensive, regular, physician-led surveillance. Patients with many large naevi but with non-red colour hair may benefit further from clinical MC1R genotyping., (© 2019 British Association of Dermatologists.)
- Published
- 2019
- Full Text
- View/download PDF
12. IRF4 rs12203592*T/T genotype is associated with nodular melanoma.
- Author
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Rayner JE, McMeniman EK, Duffy DL, De'Ambrosis B, Smithers BM, Jagirdar K, Lee KJ, Soyer HP, and Sturm RA
- Subjects
- Case-Control Studies, Genotype, Humans, Melanoma pathology, Skin Neoplasms pathology, Interferon Regulatory Factors genetics, Melanoma genetics, Skin Neoplasms genetics
- Published
- 2019
- Full Text
- View/download PDF
13. Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients.
- Author
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Rayner JE, McMeniman EK, Duffy DL, De'Ambrosis B, Smithers BM, Jagirdar K, Lee KJ, Soyer HP, and Sturm RA
- Subjects
- Adult, Aged, Case-Control Studies, Female, Humans, Male, Middle Aged, Prognosis, Melanoma, Cutaneous Malignant, Genotype, Melanoma genetics, Melanoma, Amelanotic genetics, Phenotype, Skin Neoplasms genetics
- Abstract
Background: Amelanotic/hypomelanotic melanoma is associated with poorer outcomes due to a more advanced disease stage at diagnosis., Objective: To determine phenotypic risks and genotypic associations with amelanotic/hypomelanotic melanoma to develop a clinical and genetic profile that could assist in identifying high-risk individuals., Methods: The Brisbane Naevus Morphology Study conducted from 2009 to 2016 has recruited a core of 1254 participants. Participants were drawn from a combination of volunteers from dermatology outpatient clinics, private dermatology clinics, the Brisbane Longitudinal Twin Study and QSkin study. Case participants had a personal history of melanoma and control participants no personal history of melanoma. We specifically examined seven known candidate pigmentation and melanoma genes and pigmentary phenotypic characteristics in participants with amelanotic/hypomelanotic melanoma compared to pigmented melanomas. This assayed single nucleotide polymorphisms in MC1R, TYR, HERC/OCA2, IRF4, MTAP, PLA2G6 and MITF., Results: Forty-seven participants had at least one amelanotic/hypomelanotic melanoma, and 389 had pigmented melanomas, with amelanotic/hypomelanotic melanoma patients significantly older than pigmented melanoma participants (63.3 ± 13.0 vs. 54.6 ± 15.3 years; P < 0.001). Amelanotic/hypomelanotic melanoma patients were more likely than pigmented melanoma patients to have red hair (34% vs. 15%; P = 0.01), severe hand freckling (13% vs. 5%; P = 0.01) and propensity to sunburn (63% vs. 44%; P = 0.01). MC1R R/R genotype was much more frequent in our amelanotic/hypomelanotic melanoma population (31.1% vs. 11%; P < 0.001; OR 26.4 vs. 5.9; control 1.0). Amelanotic/hypomelanotic melanoma was associated with TYR rs1126809*A/A [OR (CI 95%) 2.7 (1.1-6.8) vs. 1.2 (0.8-1.9)] and PLA2G6 rs11570734*A/A [OR (CI 95%) 3.7 (1.0-13.6) vs. 1.3 (0.9-2.0)]. The MTAP melanoma risk SNP genotype, associated with darker pigmentation, (rs4636294*A/A) was less common in amelanotic/hypomelanotic melanoma patients [OR (CI 95%) 0.8 (0.3-2.1) vs. 2.0 (1.3-3.1)]., Conclusions: Knowledge of phenotypic and genotypic associations of amelanotic/hypomelanotic melanoma can help predict risks and associations of this difficult to diagnose melanoma, which may ultimately assist clinical management and patient skin self-examination., (© 2019 European Academy of Dermatology and Venereology.)
- Published
- 2019
- Full Text
- View/download PDF
14. Patients' and doctors' preferences for disclosing dermatology results.
- Author
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Rayner JE, Jagirdar K, Soyer PH, and McMeniman EK
- Subjects
- Adult, Biopsy, Electronic Mail, Humans, Middle Aged, Physician-Patient Relations, Skin pathology, Skin Diseases blood, Text Messaging, Truth Disclosure, Attitude of Health Personnel, Communication, Patient Preference, Skin Diseases diagnosis, Skin Diseases pathology
- Published
- 2017
- Full Text
- View/download PDF
15. Malignant melanoma disguised in a tattoo.
- Author
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Anthony EP, Godbolt A, Tang F, and McMeniman EK
- Subjects
- Aged, Dermoscopy, Humans, Male, Melanoma pathology, Skin Neoplasms pathology, Melanoma diagnostic imaging, Skin Neoplasms diagnostic imaging, Tattooing
- Published
- 2015
- Full Text
- View/download PDF
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