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6. Photoacoustic imaging of Port-wine Stains

Author

Kolkman, Roy G.M., Mulder, Miranda J., Glade, Conrad P., van Leeuwen, Ton G., Steenbergen, Wiendelt, Hirschberg, Henry, Madsen, Steen J., Wong, Brian Jet-Fei, Ilgner, Justus F.R., Malek, Reza S., Gregory, Kenton W., Tearney, Guillermo J., Kollias, Nikiforos, Choi, Bernard, Zeng, Haishan, Faculty of Science and Technology, Biomedical Photonic Imaging, and Biomedical Engineering and Physics

Subjects
Adult, Male, Materials science, Adolescent, Port wine, Port-Wine Stain, Photoacoustic imaging in biomedicine, Lasers, Solid-State, Dermatology, Tissue surface, Stain, law.invention, Optics, Laser therapy, Blood vessels, law, medicine, otorhinolaryngologic diseases, Humans, Optoacoustic, business.industry, Ultrasound, Reproducibility of Results, Port-wine stain, food and beverages, Signal Processing, Computer-Assisted, Acoustics, Middle Aged, Laser-induced ultrasound, medicine.disease, Laser, Photoacoustic Doppler effect, Regional Blood Flow, Face, Female, Surgery, Signal intensity, business, Neck, psychological phenomena and processes, Biomedical engineering
Abstract

Background and Objective: To optimize laser therapy of port-wine stains (PWSs), information about the vasculature as well as lesion depth is valuable. In this study we investigated the use of photoacoustic imaging (PAI) to obtain this information. - Study Design/Materials and Methods: PAI uses pulsed light to generate ultrasound upon absorption of short light pulses by blood. In this study we used PAI to image vasculature in PWSs in three human volunteers. Two-dimensional imaging (scan direction vs. depth) was carried out by scanning a double-ring photoacoustic sensor over the tissue surface. - Results: In the photoacoustic images we observed an increased photoacoustic signal intensity at the locations of the PWS that is associated with increased vascularization. From the obtained images we measured the thickness of the vascular layer and estimated lesion depth. In some cases single vessels could be observed at the position of the PWS whereas in other cases the PWS appeared as a region with large photoacoustic signal intensity. - Conclusions: PAI has the potential to reveal information about the lesion depth as well as thickness of the vascular layer. Laser Surg. Med. 40:178-182, 2008.

Published
2007

8. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Author

UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M, Fryns, Jean-Pierre, Van Steensel, Maurice A M, Vikkula, Miikka, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M, Fryns, Jean-Pierre, Van Steensel, Maurice A M, and Vikkula, Miikka

Abstract

Hereditary lymphedema is a developmental disorder characterized by chronic swelling of the extremities due to dysfunction of the lymphatic vessels. Two responsible genes have been identified: the vascular endothelial growth factor receptor 3 (VEGFR3) gene, implicated in congenital lymphedema, or Milroy disease, and the forkhead-related transcription factor gene FOXC2, causing lymphedema-distichiasis. We describe three families with an unusual association of hypotrichosis, lymphedema, and telangiectasia. Using microsatellite analysis, we first excluded both VEGFR3 and FOXC2 as causative genes; we then considered the murine ragged phenotype, caused by mutations in the Sox18 transcription factor, as a likely counterpart to the human disease, because it presents a combination of hair and cardiovascular anomalies, including symptoms of lymphatic dysfunction. Two of the families were consanguineous; in affected members of these families, we identified homozygous missense mutations in the SOX18 gene, located in 20q13. The two amino acid substitutions, W95R and A104P, affect conserved residues in the first alpha helix of the DNA-binding domain of the transcription factor. In the third family, the parents were nonconsanguineous, and both the affected child and his brother, who died in utero with hydrops fetalis, showed a heterozygous nonsense mutation that truncates the SOX18 protein in its transactivation domain; this substitution was not found in genomic DNA from either parent and hence constitutes a de novo germline mutation. Thus, we show that SOX18 mutations in humans cause both recessive and dominant hypotrichosis-lymphedema-telangiectasia, suggesting that, in addition to its established role in hair and blood vessel development, the SOX18 transcription factor plays a role in the development and/or maintenance of lymphatic vessels.

Published
2003

13. A clinical and flow cytometric model to study remission and relapse in psoriasis.

Author

Glade, Conrad P., Van Erp, Piet E. J., Werner-Schlenzka, Hildburg, and Van De Kerkhof, Peter C. M.

Subjects
*PSORIASIS treatment, *DISEASE relapse, *FLOW cytometry
Abstract

The aim of the present study has been to analyse remission and relapse characteristics in psoriasis vulgaris. In 15 patients, two different psoriatic lesions (clinical and flow cytometric study) were treated with clobetasol propionate until clearance for maximally 23 days. In the clinical study only cleared lesions were divided into three test sectors with different post-clearance treatment: (1) alcoholic solution under occlusion, (2) occlusion only, and (3) no treatment. In the flow cytometric study, biopsies were taken from the test lesion before clobetasol therapy (i), at clearance (ii), and at relapse from both visibly affected and unaffected skin (iii, iv). Epidermal proliferation, differentiation and inflammation were quantified by multiparameter flow cytometry. The clinical evaluation worked well and could discriminate between the different therapy modalities. After 28 days, 80% of untreated sectors showed a relapse. Occlusion decreased this percentage to 50%. Application of the alcoholic solution further decreased this percentage to 30%. The flow cytometric analysis demonstrated a very low proliferative activity of the basal compartment at clearance. This activity was higher in the visibly unaffected skin at relapse, whereas highest values were assessed in the affected skin at relapse. Interestingly, at relapse the proliferative activity in the suprabasal compartment of the visibly unaffected skin had increased to values identical to the affected skin. The present model allows standardized comparison of different approaches for maintenance therapy in psoriasis vulgaris. We demonstrate that occlusion has an inhibitory effect on the tendency to relapse after successful treatment with clobetasol propionate. Quantitative information on remission and relapse of psoriasis can be obtained by multiparameter flow cytometry. [ABSTRACT FROM AUTHOR]

Published
1998
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