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Naji, M. |
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Motta, Antonella |
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Aletan, Dirar |
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Mohamed, Tarek |
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Ertürk, Emre |
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Taccardi, Nicola |
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Kononenko, Denys |
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Petrov, R. H. | Madrid |
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Alshaaer, Mazen | Brussels |
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Bih, L. |
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Casati, R. |
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Muller, Hermance |
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Kočí, Jan | Prague |
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Šuljagić, Marija |
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Kalteremidou, Kalliopi-Artemi | Brussels |
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Azam, Siraj |
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Ospanova, Alyiya |
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Blanpain, Bart |
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Ali, M. A. |
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Popa, V. |
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Rančić, M. |
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Ollier, Nadège |
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Azevedo, Nuno Monteiro |
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Landes, Michael |
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Rignanese, Gian-Marco |
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Roy, Matthew
University of Manchester
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (29/29 displayed)
- 2024Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition
- 2023Evolution and formation of dissimilar metal interface s in fusion weldingcitations
- 2023Wire-arc directed energy deposition of Inconel 718: Effects of heat input and build interruptions on mechanical performancecitations
- 2022Effects of microstructural heterogeneity and structural defects on the mechanical behaviour of wire + arc additively manufactured Inconel 718 componentscitations
- 2022A fundamental analysis of factors affecting chemical homogeneity in the laser powder bed fusion process
- 2021Internal stresses in a clad pressure vessel steel during post weld heat treatment and their relevance to underclad crackingcitations
- 2021Internal stresses in a clad pressure vessel steel during post weld heat treatment and their relevance to underclad crackingcitations
- 2021Dry sliding wear behaviour of additive manufactured CrC-rich WC-Co cemented carbides
- 2020Process response of Inconel 718 to wire + arc additive manufacturing with cold metal transfercitations
- 2020Comparison of sub-grain scale digital image correlation calculated using commercial and open-source software packagescitations
- 2020pyCM: An open-source computational framework for residual stress analysis employing the Contour Methodcitations
- 2020Evaluation of wear mechanisms in additive manufactured carbide-rich tool steels
- 2019Residual stresses in arc and electron-beam welds in 130 mm thick SA508 steelcitations
- 2019High temperature low cycle fatigue characterization of equiaxed MAR-M-247citations
- 2019Residual stresses in arc and electron-beam welds in 130 mm thick SA508 steel:Part 1 - Manufacturecitations
- 2018Improved low cycle fatigue analysis for Nickle based turbine nozzles
- 2018AN INVESTIGATION INTO THE INTERFACE BEHAVIOUR OF AN ALUMINIUM/SILICON CARBIDE FIBRE METAL MATRIX COMPOSITE
- 2018Residual Stress Distributions in Arc, Laser and Electron-Beam Welds in 30 mm Thick SA508 Steelcitations
- 2018Residual Stress Distributions in Arc, Laser and Electron-Beam Welds in 30 mm Thick SA508 Steel:A Cross-Process Comparisoncitations
- 2017Residual Stress Characterization and Control in the Additive Manufacture of Large Scale Metal Structurescitations
- 2017An Evaluation of Multipass Narrow Gap Laser Welding as a Candidate Process for the Manufacture of Nuclear Pressure Vesselscitations
- 2017Comparison of residual stress distributions in conventional and stationary shoulder high-strength aluminum alloy friction stir weldscitations
- 2017Thermal cycle-dependent metallurgical variations and their effects on the through-thickness mechanical properties in thick section narrow-gap weldscitations
- 2017A Novel Arc Heat Treatment Technique for Producing Graded Microstructures Through Controlled Temperature Gradientscitations
- 2017Measurement of residual stresses induced by sequential weld buttering and cladding operations involving a 2.25Cr-1Mo substrate materialcitations
- 2016The effect of the weld fusion zone shape on residual stress in submerged arc weldingcitations
- 2015Influence of casting defect and SDAS on the multiaxial fatigue behaviour of A356-T6 alloy including mean stress effectcitations
- 2015Influence of casting defect and SDAS on the multiaxial fatigue behaviour of A356-T6 alloy including mean stress effectcitations
- 2015Analysis and modelling of a rotary forming process for cast aluminum alloy A356citations
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article
Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition
Abstract
<jats:title>Abstract</jats:title><jats:p>We present the case of a 17-year-old gentleman, initially referred to rheumatology with painful enlargement of his joints, along with prominence of facial features consistent with cutis verticis gyrata.</jats:p><jats:p>Genetic testing confirmed a diagnosis of pachydermoperiostosis, a rare genetic condition characterised by digital clubbing, long bone periostosis and pachydermia.</jats:p><jats:p>Our patient exhibited heterozygosity for the SLCO2A1 variant, which is known to confer more prominent skin and bone features than other known underlying mutations. His arthralgia caused significant functional impairment, but moreover there were concerns regarding the psychosocial impact of his cosmetic features, for which there appear to be few available medical therapies.</jats:p><jats:p>As a multi-system genetic condition, pachydermoperiostosis is also known to be associated with other significant sequelae such as myelofibrosis and gastric ulceration, highlighting the importance of its early detection, which may be aided by the recognition of dermatological signs.</jats:p><jats:p>In our patient’s case, the concurrence of orthostatic hypotension and iron deficiency anaemia were concluded to be a function of restricted dietary intake due to his change in appearance, once again highlighting the cosmetic implications of this condition, and importance of further research into its medical management.</jats:p>