| 1. |
- Craiglow, Brittany G., et al.
(author)
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CARD14-associated papulosquamous eruption : A spectrum including features of psoriasis and pityriasis rubra pilaris
- 2018
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In: The Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622 .- 1097-6787. ; 79:3, s. 487-494
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Journal article (peer-reviewed)abstract
- Background: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-alpha inhibitors. Objective: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. Methods: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. Results: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. Limitations: Relatively small sample size. Conclusions: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.
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| 2. |
- Grant, Alexander M., et al.
(author)
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Diffuse optical spectroscopy of melanoma-simulating silicone phantoms
- 2009
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In: PROCEEDINGS VOLUME 7187 SPIE BIOS, 24-29 JANUARY 2009 Biomedical Applications of Light Scattering III. - : SPIE - International Society for Optical Engineering. - 9780819474339 ; , s. 718702-1-718702-12
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Conference paper (peer-reviewed)abstract
- Currently the only method for positively identifying malignant melanoma involves invasive and often undesirable biopsy procedures. Available ex-vivo data indicates increased vascularization in the lower regions of excised melanoma, as compared to dysplastic nevi. The ability to interrogate this region of tissue in-vivo could lead to useful diagnostic information. Using a newly developed fiber based superficial probe in conjunction with a steady-state frequency-domain photon migration (SSFDPM) system, we can probe the upper 1-2 mm of tissue, extracting functional information in the near infrared (650-1000 nm) range. To test the resolution and detection range of the superficial probe in this context, deformable silicone phantoms have been fabricated that simulate normal skin with melanocytic lesions. These phantoms consist of a two-layered matrix with the optical properties of normal light skin, containing several cylindrical inclusions that simulate highly absorbing pigmented lesions such as melanoma. These inclusions are varied in depth, diameter, and optical properties in order to fully test the probe's detection capabilities. It was found that, depending on absorption, we can typically probe to a depth of 1.0-1.5 mm in an inclusion, likely reaching the site of angiogenesis in an early-stage melanoma. Additionally, we can successfully interrogate normal tissue below lesions 1.5mm deep when absorption is about 0.4/mm or less. This data indicates that the superficial probe shows great promise for non-invasive diagnosis of pigmented lesions.
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| 3. |
- Saager, Rolf B., 1974-, et al.
(author)
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Quantitative near infrared spectroscopic analysis of Q-Switched Nd:YAG treatment of generalized argyria
- 2013
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In: Lasers in Surgery and Medicine. - : Wiley-Blackwell. - 0196-8092 .- 1096-9101. ; 45:1, s. 15-21
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Journal article (peer-reviewed)abstract
- Background and ObjectiveGeneralized argyria is a blue‐gray hyperpigmentation of the skin resulting from ingestion or application of silver compounds, such as silver colloid. Case reports have noted improvement after Q‐Switched Neodymium–Yttrium Aluminum Garnet laser (1,064 nm QS Nd:YAG) laser treatment to small surface areas. No reports have objectively monitored laser treatment of generalized argyria over large areas of skin, nor have long‐term outcomes been evaluated.Study Design/Materials and MethodsAn incremental treatment plan was developed for a subject suffering from argyria. A quantitative near infrared spectroscopic measurement technique was employed to non‐invasively analyze tissue‐pigment characteristics pre‐ and post‐laser treatment. Post‐treatment measurements were collected at weeks 1, 2, 3, and 4, and again at 1 year.ResultsImmediate apparent removal of pigment was observed with 1 Q‐switched 1,064 nm Nd:YAG laser treatment (3–6 mm spot; 0.8–2 J/cm2) per area. Entire face, neck, upper chest, and arms were treated over multiple sessions. Treatments were very painful and general anesthesia was utilized in order to treat large areas. Near‐infrared spectroscopy was used to characterize and quantify the concentration of silver particles in the dermis based on the absorption features of the silver particles as well as the optical scattering effects they impart. We were able to estimate that there was, on average, 0.042 mg/ml concentration of silver prior to treatment and that these levels went below the minimum detectable limit of the instrument post‐treatment. There was no recurrence of discoloration over the 1‐year study period.ConclusionQS 1,064 nm laser treatment of argyria is a viable method to restore normal skin pigmentation with no evidence of recurrence over study period. Quantitative spectroscopic measurements: (1) confirmed dyspigmentation was due to silver, (2) validated our clinical assessment of no recurrence up to 1‐year post‐treatment, and (3) indicated no collateral tissue damage with treatments. Lasers Surg. Med. 45: 15–21, 2013. © 2013 Wiley Periodicals, Inc.
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| 4. |
- Smith, William J., et al.
(author)
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Limited domestic introgression in a final refuge of the wild pigeon
- 2022
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In: iScience. - : Cell Press. - 2589-0042. ; 25:7
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Journal article (peer-reviewed)abstract
- Domesticated animals have been culturally and economically important throughout history. Many of their ancestral lineages are extinct or genetically endangered following hybridization with domesticated relatives. Consequently, they have been understudied compared to the ancestral lineages of domestic plants. The domestic pigeon Columba livia, which was pivotal in Darwin's studies, has maintained outsized cultural significance. Its role as a model organism spans the fields of behavior, genetics, and evolution. Domestic pigeons have hybridized with their progenitor, the Rock Dove, rendering the latter of dubious genetic status. Here, we use genomic and morphological data from the putative Rock Doves of the British Isles to identify relictual undomesticated populations. We reveal that Outer Hebridean Rock Doves have experienced minimal levels of introgression. Our results outline the contemporary status of these wild pigeons, high-lighting the role of hybridization in the homogenization of genetic lineages.
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| 5. |
- Sundqvist, Martina, et al.
(author)
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Anti-neutrophil cytoplasmic antibodies (ANCA): Antigen interactions and downstream effects.
- 2020
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In: Journal of leukocyte biology. - 1938-3673. ; 108:2, s. 617-626
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Research review (peer-reviewed)abstract
- Neutrophils are the most abundant leukocytes in circulation and are key "first responders" in the immune response to infectious and non-infectious stimuli. Unlike other immune cells, neutrophils can mount a robust response (including a change in surface markers and the production of extracellular traps and reactive oxygen species) just minutes after sensing a disturbance. It has been speculated that, in some individuals, the activation of neutrophils inadvertently leads to the generation of anti-neutrophil cytoplasmic autoantibodies (ANCA) against particular neutrophil proteins (antigens) such as myeloperoxidase (MPO) and proteinase 3 (PR3). In these individuals, continuous ANCA-antigen interactions are thought to drive persistent activation of neutrophils, chronic immune activation, and disease, most notably, small vessel vasculitis. There are significant gaps however in our understanding of the underlying mechanisms and even the pathogenicity of ANCA given that vasculitis can develop in the absence of ANCA, and that ANCA have been found in circulation in other conditions with no apparent contribution to disease. These gaps are particularly evident in the context of human studies. Herein, we review knowledge on neutrophil-derived ANCA antigens PR3 and MPO, ANCA generation, and ANCA-antigen interaction(s) that may promote immune activation and disease.
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| 6. |
- Jang, David H., et al.
(author)
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Alterations in cerebral and cardiac mitochondrial function in a porcine model of acute carbon monoxide poisoning
- 2021
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In: Clinical Toxicology. - : Informa UK Limited. - 1556-3650 .- 1556-9519. ; 59:9, s. 801-809
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Journal article (peer-reviewed)abstract
- Objectives: The purpose of this study is the development of a porcine model of carbon monoxide (CO) poisoning to investigate alterations in brain and heart mitochondrial function. Design: Two group large animal model of CO poisoning. Setting: Laboratory. Subjects: Ten swine were divided into two groups: Control (n = 4) and CO (n = 6). Interventions: Administration of a low dose of CO at 200 ppm to the CO group over 90 min followed by 30 min of re-oxygenation at room air. The Control group received room air for 120 min. Measurements: Non-invasive optical monitoring was used to measure cerebral blood flow and oxygenation. Cerebral microdialysis was performed to obtain semi real time measurements of cerebral metabolic status. At the end of the exposure, both fresh brain (cortical and hippocampal tissue) and heart (apical tissue) were immediately harvested to measure mitochondrial respiration and reactive oxygen species (ROS) generation and blood was collected to assess plasma cytokine concentrations. Main results: Animals in the CO group showed significantly decreased Complex IV-linked mitochondrial respiration in hippocampal and apical heart tissue but not cortical tissue. There also was a significant increase in mitochondrial ROS generation across all measured tissue types. The CO group showed a significantly higher cerebral lactate-to-pyruvate ratio. Both IL-8 and TNFα were significantly increased in the CO group compared with the Control group obtained from plasma. While not significant there was a trend to an increase in optically measured cerebral blood flow and hemoglobin concentration in the CO group. Conclusions: Low-dose CO poisoning is associated with early mitochondrial disruption prior to an observable phenotype highlighting the important role of mitochondrial function in the pathology of CO poisoning. This may represent an important intervenable pathway for therapy and intervention.
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| 7. |
- Nguyen, John Quan, et al.
(author)
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Effects of motion on optical properties in the spatial frequency domain
- 2011
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In: Journal of Biomedical Optics. - : OSA Publishing. - 1083-3668 .- 1560-2281. ; 16:12, s. 126009-1-126009-9
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Journal article (peer-reviewed)abstract
- Spatial frequency domain imaging (SFDI) is a noncontact and wide-field optical imaging technology currently being used to study the optical properties and chromophore concentrations of in vivo skin including skin lesions of various types. Part of the challenge of developing a clinically deployable SFDI system is related to the development of effective motion compensation strategies, which in turn, is critical for recording high fidelity optical properties. Here we present a two-part strategy for SFDI motion correction. After verifying the effectiveness of the motion correction algorithm on tissue-simulating phantoms, a set of skin-imaging data was collected in order to test the performance of the correction technique under real clinical conditions. Optical properties were obtained with and without the use of the motion correction technique. The results indicate that the algorithm presented here can be used to render optical properties in moving skin surfaces with fidelities within 1.5% of an ideal stationary case and with up to 92.63% less variance. Systematic characterization of the impact of motion variables on clinical SFDI measurements reveals that until SFDI instrumentation is developed to the point of instantaneous imaging, motion compensation is necessary for the accurate localization and quantification of heterogeneities in a clinical setting.
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| 8. |
- Nguyen, John Quan, et al.
(author)
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Motion correction in spatial frequency domain imaging$\mathsemicolon$ optical property determination in pigmented lesions
- 2011
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In: Proceedings Volume 7883 SPIE BIOS, 22-27 JANUARY 2011 Photonic Therapeutics and Diagnostics VII. - : SPIE - International Society for Optical Engineering.
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Conference paper (peer-reviewed)abstract
- Background and Objective: Spatial Frequency Domain Imaging (SFDI) is a non-contact wide-field optical imaging technology currently being used to study the optical properties and chromophore concentrations of in-vivo malignant melanomas and benign pigmented lesions. Our objective is to develop a motion correction procedure in order to assess the concerns of subject-motion related variables during clinical measurements.Study Design/Materials and Methods: SFDI motion-correction is a two-part procedure which utilizes a fiduciary marker and canny-edge detection in order to reposition and align the frame-to-frame regions-of-interest (ROI). Motioninduced phase-shifts are subsequently sampled before the entire image-set is processed by a modified demodulation formula. By comparing the results of the adjusted processing method with data gathered from the current non-corrected method, we were able to systematically characterize the impact of motion variables on SFDI measurements.Results: Motion-corrected SFDI data from moving phantom measurements and clinical patient measurements showed up to 84.58% decrease in absorption (μa) variance and up to 92.63% decrease in reduced-scattering (μs') variance. Stationary phantom test-measurements showed almost no difference between motion corrected and standard processing. Conclusion: SFDI motion correction is necessary for obtaining high-fidelity in-vivo optical property measurements of pigmented lesions in a clinical setting.
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