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1. Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy

Author

Ben Ner D, Sher I, Hamburg A, Mhajna MO, Chibel R, Derazne E, Sharvit-Ginon I, Pras E, Newman H, Levy J, Khateb S, Sharon D, and Rotenstreich Y

Subjects
Best Vitelliform Macular Dystrophy, BVMD, Pupillary Light Reflex, Perimetry, Pupilloperimetry, Ophthalmology, RE1-994
Abstract

Daniel Ben Ner,1,2 Ifat Sher,1 Amit Hamburg,1,2 Mohamad O Mhajna,1,2 Ron Chibel,1,2 Estela Derazne,2 Inbal Sharvit-Ginon,3,4 Eran Pras,2,5 Hadas Newman,2,6 Jaime Levy,7 Samer Khateb,7 Dror Sharon,7 Ygal Rotenstreich1,2 1Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 3Department of Psychology, Bar Ilan University, Ramat Gan, Israel; 4The Joseph Sagol Neuroscience Center, Sheba Medical Center, Ramat Gan, Israel; 5The Matlow’s Ophthalmo-Genetics Laboratory, Department of Ophthalmology, Assaf-Harofeh Medical Center, Zerifin, Israel; 6Ophthalmology Department, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; 7Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel Purpose: To determine the pupil response of Best vitelliform macular dystrophy (BVMD) patients for focal blue and red light stimuli presented at 76 test points in a 16.2° visual field (VF) using a chromatic pupilloperimeter.Methods: An observational study was conducted in 16 participants: 7 BVMD patients with a heterozygous BEST1 mutation and 9 similar-aged controls. All participants were tested for best-corrected visual acuity, chromatic pupilloperimetry and Humphrey perimetry. Percentage of pupil contraction (PPC), maximal pupil contraction velocity (MCV) and latency of MCV (LMCV) were determined.Results: The mean PPC and MCV recorded in BVMD patients in response to red stimuli were lower by >2 standard errors (SEs) from the mean of controls in 47% and 43% of VF test points, respectively. The mean PPC and MCV recorded in the patients in response to blue stimuli were lower by >2 SEs from the mean of controls in 36% and 24% of VF test points, respectively. The patients’ mean and median MCV recorded in response to red light correlated with their Humphrey mean deviation score (r=−0.714, P=0.071 and r=−0.821, P=0.023, respectively) and visual acuity (r=0.709, P=0.074 and r=0.655, P=0.111, respectively). A substantially shorter mean LMCV was recorded in BVMD patients compared to controls in 54% and 93% of VF test points in response to red and blue light, respectively. Receiver operating characteristic analysis for LMCV in response to red light identified a test point at the center of the VF with high diagnostic accuracy (area under the curve of 0.94).Conclusion: Chromatic pupilloperimetry may potentially be used for objective noninvasive assessment of rod and cone cell function in different locations of the retina in BVMD patients. Keywords: Best vitelliform macular dystrophy, pupillary light reflex, perimetry, pupilloperimetry, visual field

Published
2019

4. POS1198 EPIDEMIOLOGY OF VEXAS SYNDROME IN ISRAEL – A HIGH PREVALENCE OF UBA1 p.M41V PATHOGENIC VARIANT IN ISRAELI VEXAS PATIENTS

Author

Eviatar, T., primary, Zisapel, M., additional, Feinstein Goren, N., additional, Sagy, I., additional, Kivity, S., additional, Lidar, M., additional, Bieber, A., additional, Tayer-Shifman, O., additional, Peleg, H., additional, Ozeri, D., additional, Shamash, J., additional, Pras, E., additional, Baris-Feldman, H., additional, Edel, Y., additional, Dortort Lazar, A., additional, Wolach, O., additional, Molad, Y., additional, Stremer, G., additional, Naffa, M. E., additional, Porges, T., additional, and Elkayam, O., additional

Published
2024
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5. Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): patterns of recurrence and post-hoc survival analysis of a randomised phase 3 trial

Author

McCormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, PJ, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Lutgens, LCHW, Hollema, H, Pras, E, Snyers, A, Westerveld, GH, Jobsen, JJ, Slot, A, Mens, JM, Stam, TC, Van Triest, B, Van der Steen-Banasik, EM, De Winter, KAJ, Quinn, MA, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Colombo, A, Carinelli, S, Ferrero, A, Artioli, G, Davidson, C, McLachlin, CM, Ghatage, P, Rittenberg, PVC, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, Tubiana-Mathieu, N, de Boer, Stephanie M, Powell, Melanie E, Mileshkin, Linda, Katsaros, Dionyssios, Bessette, Paul, Haie-Meder, Christine, Ottevanger, Petronella B, Ledermann, Jonathan A, Khaw, Pearly, D'Amico, Romerai, Fyles, Anthony, Baron, Marie-Helene, Jürgenliemk-Schulz, Ina M, Kitchener, Henry C, Nijman, Hans W, Wilson, Godfrey, Brooks, Susan, Gribaudo, Sergio, Provencher, Diane, Hanzen, Chantal, Kruitwagen, Roy F, Smit, Vincent T H B M, Singh, Naveena, Do, Viet, Lissoni, Andrea, Nout, Remi A, Feeney, Amanda, Verhoeven-Adema, Karen W, Putter, Hein, and Creutzberg, Carien L

Published
2019
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7. Vulva

Author

Oonk, M. H. M., primary, Pras, E., additional, and van der Zee, A. G. J., additional

Published
2015
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8. Differential patterns of HBV RNA and HBcrAg levels in a large european cross-sectional study of untreated patients with chronic Hepatitis Delta.

Author

Degasperi, E., Scholtes, C., Testoni, B., Renteria, S. Uceda, Anolli, M.P., Charre, C., Facchetti, F., Plissonnier, M.L., Sambarino, D., Perbellini, R., Monico, S., Callegaro, A., García-Pras, E., Lens, S., Cortese, M.F., Forns, X., Pérez-del-Pulgar, S., Heil, M., Levrero, M., and Zoulim, F.

Abstract

Serum HBV RNA and HBcrAg levels have been proposed as useful biomarkers in the management of HBV patients, however their role in chronic hepatitis Delta (CHD) is currently unknown. Consecutive untreated CHD patients were enrolled in a cross-sectional study in three EU centers. Clinical and virological characteristics were collected. Serum HBV RNA and HBcrAg levels were quantified by an automated real-time investigational assay (Cobas® 6800, Roche Diagnostics, Pleasanton, Ca, USA) and by LUMIPULSE® G HBcrAg assay (Fujirebio Europe), respectively. In 18 patients with available liver biopsies, intrahepatic analyses were performed. Overall, 240 HDV patients were enrolled: median age 46 years, 62% males, 53% cirrhotics, 57% NUC-treated, median ALT 70 U/L, HBsAg 3.8 log 10 IU/mL, 88% HBeAg-negative, median HDV RNA 4.9 log 10 IU/mL. HBV RNA tested positive (>10 cp/mL) in only 8% of the patients [median 40 (13-82,000) cp/mL], whereas HBcrAg was ≥3 log 10 U/mL in 77% [median 4.2 (3.0-8.0) log 10 U/mL]. By combining these biomarkers, 3 categories were identified: 23% double negative (HBV RNA neg/HBcrAg neg), 9% double positive (HBV RNA pos/HBcrAg pos) and 68% HBV RNA negative/HBcrAg positive. HBV RNA levels positively correlated with male sex and detectable HBV DNA, while positive HBcrAg correlated with higher HBsAg levels. Double positive patients were younger, non-European, with elevated ALT and HDV RNA levels and detectable HBV DNA. Intrahepatic HDV RNA and HBV RNA were positive in most samples, while intrahepatic levels of covalently closed circular (ccc)DNA were low. In untreated CHD, most patients had undetectable HBV RNA but quantifiable HBcrAg ("divergent pattern") in the absence of HBeAg. Additional studies aimed to unravel the molecular mechanisms underlying these findings are warranted. [ABSTRACT FROM AUTHOR]

Published
2025
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14. Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): patterns of recurrence and post-hoc survival analysis of a randomised phase 3 trial

Author

de Boer, S, Powell, M, Mileshkin, L, Katsaros, D, Bessette, P, Haie-Meder, C, Ottevanger, P, Ledermann, J, Khaw, P, D'Amico, R, Fyles, A, Baron, M, Jurgenliemk-Schulz, I, Kitchener, H, Nijman, H, Wilson, G, Brooks, S, Gribaudo, S, Provencher, D, Hanzen, C, Kruitwagen, R, Smit, V, Singh, N, Do, V, Lissoni, A, Nout, R, Feeney, A, Verhoeven-Adema, K, Putter, H, Creutzberg, C, Mccormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, P, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Lutgens, L, Hollema, H, Pras, E, Snyers, A, Westerveld, G, Jobsen, J, Slot, A, Mens, J, Stam, T, Van Triest, B, Van der Steen-Banasik, E, De Winter, K, Quinn, M, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Colombo, A, Carinelli, S, Ferrero, A, Artioli, G, Davidson, C, Mclachlin, C, Ghatage, P, Rittenberg, P, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, Tubiana-Mathieu, N, de Boer S. M., Powell M. E., Mileshkin L., Katsaros D., Bessette P., Haie-Meder C., Ottevanger P. B., Ledermann J. A., Khaw P., D'Amico R., Fyles A., Baron M. -H., Jurgenliemk-Schulz I. M., Kitchener H. C., Nijman H. W., Wilson G., Brooks S., Gribaudo S., Provencher D., Hanzen C., Kruitwagen R. F., Smit V. T. H. B. M., Singh N., Do V., Lissoni A., Nout R. A., Feeney A., Verhoeven-Adema K. W., Putter H., Creutzberg C. L., McCormack M., Whitmarsh K., Allerton R., Gregory D., Symonds P., Hoskin P. J., Adusumalli M., Anand A., Wade R., Stewart A., Taylor W., Lutgens L. C. H. W., Hollema H., Pras E., Snyers A., Westerveld G. H., Jobsen J. J., Slot A., Mens J. M., Stam T. C., Van Triest B., Van der Steen-Banasik E. M., De Winter K. A. J., Quinn M. A., Kolodziej I., Pyman J., Johnson C., Capp A., Fossati R., Colombo A., Carinelli S., Ferrero A., Artioli G., Davidson C., McLachlin C. M., Ghatage P., Rittenberg P. V. C., Souhami L., Thomas G., Duvillard P., Berton-Rigaud D., Tubiana-Mathieu N., de Boer, S, Powell, M, Mileshkin, L, Katsaros, D, Bessette, P, Haie-Meder, C, Ottevanger, P, Ledermann, J, Khaw, P, D'Amico, R, Fyles, A, Baron, M, Jurgenliemk-Schulz, I, Kitchener, H, Nijman, H, Wilson, G, Brooks, S, Gribaudo, S, Provencher, D, Hanzen, C, Kruitwagen, R, Smit, V, Singh, N, Do, V, Lissoni, A, Nout, R, Feeney, A, Verhoeven-Adema, K, Putter, H, Creutzberg, C, Mccormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, P, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Lutgens, L, Hollema, H, Pras, E, Snyers, A, Westerveld, G, Jobsen, J, Slot, A, Mens, J, Stam, T, Van Triest, B, Van der Steen-Banasik, E, De Winter, K, Quinn, M, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Colombo, A, Carinelli, S, Ferrero, A, Artioli, G, Davidson, C, Mclachlin, C, Ghatage, P, Rittenberg, P, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, Tubiana-Mathieu, N, de Boer S. M., Powell M. E., Mileshkin L., Katsaros D., Bessette P., Haie-Meder C., Ottevanger P. B., Ledermann J. A., Khaw P., D'Amico R., Fyles A., Baron M. -H., Jurgenliemk-Schulz I. M., Kitchener H. C., Nijman H. W., Wilson G., Brooks S., Gribaudo S., Provencher D., Hanzen C., Kruitwagen R. F., Smit V. T. H. B. M., Singh N., Do V., Lissoni A., Nout R. A., Feeney A., Verhoeven-Adema K. W., Putter H., Creutzberg C. L., McCormack M., Whitmarsh K., Allerton R., Gregory D., Symonds P., Hoskin P. J., Adusumalli M., Anand A., Wade R., Stewart A., Taylor W., Lutgens L. C. H. W., Hollema H., Pras E., Snyers A., Westerveld G. H., Jobsen J. J., Slot A., Mens J. M., Stam T. C., Van Triest B., Van der Steen-Banasik E. M., De Winter K. A. J., Quinn M. A., Kolodziej I., Pyman J., Johnson C., Capp A., Fossati R., Colombo A., Carinelli S., Ferrero A., Artioli G., Davidson C., McLachlin C. M., Ghatage P., Rittenberg P. V. C., Souhami L., Thomas G., Duvillard P., Berton-Rigaud D., and Tubiana-Mathieu N.

Abstract

Background: The PORTEC-3 trial investigated the benefit of combined adjuvant chemotherapy and radiotherapy versus pelvic radiotherapy alone for women with high-risk endometrial cancer. We updated the analysis to investigate patterns of recurrence and did a post-hoc survival analysis. Methods: In the multicentre randomised phase 3 PORTEC-3 trial, women with high-risk endometrial cancer were eligible if they had International Federation of Gynaecology and Obstetrics (FIGO) 2009 stage I, endometrioid grade 3 cancer with deep myometrial invasion or lymphovascular space invasion, or both; stage II or III disease; or stage I–III disease with serous or clear cell histology; were aged 18 years and older; and had a WHO performance status of 0–2. Participants were randomly assigned (1:1) to receive radiotherapy alone (48·6 Gy in 1·8 Gy fractions given on 5 days per week) or chemoradiotherapy (two cycles of cisplatin 50 mg/m2 given intravenously during radiotherapy, followed by four cycles of carboplatin AUC5 and paclitaxel 175 mg/m2 given intravenously), by use of a biased coin minimisation procedure with stratification for participating centre, lymphadenectomy, stage, and histological type. The co-primary endpoints were overall survival and failure-free survival. Secondary endpoints of vaginal, pelvic, and distant recurrence were analysed according to the first site of recurrence. Survival endpoints were analysed by intention-to-treat, and adjusted for stratification factors. Competing risk methods were used for failure-free survival and recurrence. We did a post-hoc analysis to analyse patterns of recurrence with 1 additional year of follow-up. The study was closed on Dec 20, 2013; follow-up is ongoing. This study is registered with ISRCTN, number ISRCTN14387080, and ClinicalTrials.gov, number NCT00411138. Findings: Between Nov 23, 2006, and Dec 20, 2013, 686 women were enrolled, of whom 660 were eligible and evaluable (330 in the chemoradiotherapy group, and 330 in the rad

Published
2019

20. Adjuvant chemoradiotherapy versus radiotherapy alone for women with high-risk endometrial cancer (PORTEC-3): final results of an international, open-label, multicentre, randomised, phase 3 trial

Author

de Boer, S, Powell, M, Mileshkin, L, Katsaros, D, Bessette, P, Haie-Meder, C, Ottevanger, P, Ledermann, J, Khaw, P, Colombo, A, Fyles, A, Baron, M, Jurgenliemk-Schulz, I, Kitchener, H, Nijman, H, Wilson, G, Brooks, S, Carinelli, S, Provencher, D, Hanzen, C, Lutgens, L, Smit, V, Singh, N, Do, V, D'Amico, R, Nout, R, Feeney, A, Verhoeven-Adema, K, Putter, H, Creutzberg, C, Mccormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, P, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Kruitwagen, R, Hollema, H, Pras, E, Snyers, A, Stalpers, L, Jobsen, J, Slot, A, Mens, J, Stam, T, Van Triest, B, Van der Steen - Banasik, E, De Winter, K, Quinn, M, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Gribaudo, S, Lissoni, A, Ferrero, A, Artioli, G, Davidson, C, Mclachlin, C, Ghatage, P, Rittenberg, P, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, Tubiana-Mathieu, N, de Boer S. M., Powell M. E., Mileshkin L., Katsaros D., Bessette P., Haie-Meder C., Ottevanger P. B., Ledermann J. A., Khaw P., Colombo A., Fyles A., Baron M. -H., Jurgenliemk-Schulz I. M., Kitchener H. C., Nijman H. W., Wilson G., Brooks S., Carinelli S., Provencher D., Hanzen C., Lutgens L. C. H. W., Smit V. T. H. B. M., Singh N., Do V., D'Amico R., Nout R. A., Feeney A., Verhoeven-Adema K. W., Putter H., Creutzberg C. L., McCormack M., Whitmarsh K., Allerton R., Gregory D., Symonds P., Hoskin P. J., Adusumalli M., Anand A., Wade R., Stewart A., Taylor W., Kruitwagen R. F. P. M., Hollema H., Pras E., Snyers A., Stalpers L., Jobsen J. J., Slot A., Mens J. -W. M., Stam T. C., Van Triest B., Van der Steen - Banasik E. M., De Winter K. A. J., Quinn M. A., Kolodziej I., Pyman J., Johnson C., Capp A., Fossati R., Gribaudo S., Lissoni A. A., Ferrero A., Artioli G., Davidson C., McLachlin C. M., Ghatage P., Rittenberg P. V. C., Souhami L., Thomas G., Duvillard P., Berton-Rigaud D., Tubiana-Mathieu N., de Boer, S, Powell, M, Mileshkin, L, Katsaros, D, Bessette, P, Haie-Meder, C, Ottevanger, P, Ledermann, J, Khaw, P, Colombo, A, Fyles, A, Baron, M, Jurgenliemk-Schulz, I, Kitchener, H, Nijman, H, Wilson, G, Brooks, S, Carinelli, S, Provencher, D, Hanzen, C, Lutgens, L, Smit, V, Singh, N, Do, V, D'Amico, R, Nout, R, Feeney, A, Verhoeven-Adema, K, Putter, H, Creutzberg, C, Mccormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, P, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Kruitwagen, R, Hollema, H, Pras, E, Snyers, A, Stalpers, L, Jobsen, J, Slot, A, Mens, J, Stam, T, Van Triest, B, Van der Steen - Banasik, E, De Winter, K, Quinn, M, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Gribaudo, S, Lissoni, A, Ferrero, A, Artioli, G, Davidson, C, Mclachlin, C, Ghatage, P, Rittenberg, P, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, Tubiana-Mathieu, N, de Boer S. M., Powell M. E., Mileshkin L., Katsaros D., Bessette P., Haie-Meder C., Ottevanger P. B., Ledermann J. A., Khaw P., Colombo A., Fyles A., Baron M. -H., Jurgenliemk-Schulz I. M., Kitchener H. C., Nijman H. W., Wilson G., Brooks S., Carinelli S., Provencher D., Hanzen C., Lutgens L. C. H. W., Smit V. T. H. B. M., Singh N., Do V., D'Amico R., Nout R. A., Feeney A., Verhoeven-Adema K. W., Putter H., Creutzberg C. L., McCormack M., Whitmarsh K., Allerton R., Gregory D., Symonds P., Hoskin P. J., Adusumalli M., Anand A., Wade R., Stewart A., Taylor W., Kruitwagen R. F. P. M., Hollema H., Pras E., Snyers A., Stalpers L., Jobsen J. J., Slot A., Mens J. -W. M., Stam T. C., Van Triest B., Van der Steen - Banasik E. M., De Winter K. A. J., Quinn M. A., Kolodziej I., Pyman J., Johnson C., Capp A., Fossati R., Gribaudo S., Lissoni A. A., Ferrero A., Artioli G., Davidson C., McLachlin C. M., Ghatage P., Rittenberg P. V. C., Souhami L., Thomas G., Duvillard P., Berton-Rigaud D., and Tubiana-Mathieu N.

Abstract

Background: Although women with endometrial cancer generally have a favourable prognosis, those with high-risk disease features are at increased risk of recurrence. The PORTEC-3 trial was initiated to investigate the benefit of adjuvant chemotherapy during and after radiotherapy (chemoradiotherapy) versus pelvic radiotherapy alone for women with high-risk endometrial cancer. Methods: PORTEC-3 was an open-label, international, randomised, phase 3 trial involving 103 centres in six clinical trials collaborating in the Gynaecological Cancer Intergroup. Eligible women had high-risk endometrial cancer with FIGO 2009 stage I, endometrioid-type grade 3 with deep myometrial invasion or lymph-vascular space invasion (or both), endometrioid-type stage II or III, or stage I to III with serous or clear cell histology. Women were randomly assigned (1:1) to receive radiotherapy alone (48·6 Gy in 1·8 Gy fractions given on 5 days per week) or radiotherapy and chemotherapy (consisting of two cycles of cisplatin 50 mg/m2 given during radiotherapy, followed by four cycles of carboplatin AUC5 and paclitaxel 175 mg/m2) using a biased-coin minimisation procedure with stratification for participating centre, lymphadenectomy, stage of cancer, and histological type. The co-primary endpoints were overall survival and failure-free survival. We used the Kaplan-Meier method, log-rank test, and Cox regression analysis for final analysis by intention to treat and adjusted for stratification factors. The study was closed on Dec 20, 2013, after achieving complete accrual; follow-up is ongoing. PORTEC-3 is registered with ISRCTN, number ISRCTN14387080, and ClinicalTrials.gov, number NCT00411138. Results: 686 women were enrolled between Nov 23, 2006, and Dec 20, 2013. 660 eligible patients were included in the final analysis, of whom 330 were assigned to chemoradiotherapy and 330 were assigned to radiotherapy. Median follow-up was 60·2 months (IQR 48·1–73·1). 5-year overall survival was 81·8% (95% CI

Published
2018

25. Primary sarcoma of the heart: case report and literature review

Author

Moeri-Schimmel, R., Pras, E., Desar, I.M., Krol, S. van der, Braam, P.M., Moeri-Schimmel, R., Pras, E., Desar, I.M., Krol, S. van der, and Braam, P.M.

Abstract

Contains fulltext : 220467.pdf (publisher's version ) (Open Access)

Published
2020

26. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

Author

Sharon, D., Ben-Yosef, T., Goldenberg-Cohen, N., Pras, E., Gradstein, L., Soudry, S., Mezer, E., Zur, D., Abbasi, A.H., Zeitz, C., Cremers, F.P.M., Khan, M.I., Levy, J., Rotenstreich, Y., Birk, O.S., Ehrenberg, M., Leibu, R., Newman, H., Shomron, N., Banin, E., Perlman, I., Sharon, D., Ben-Yosef, T., Goldenberg-Cohen, N., Pras, E., Gradstein, L., Soudry, S., Mezer, E., Zur, D., Abbasi, A.H., Zeitz, C., Cremers, F.P.M., Khan, M.I., Levy, J., Rotenstreich, Y., Birk, O.S., Ehrenberg, M., Leibu, R., Newman, H., Shomron, N., Banin, E., and Perlman, I.

Abstract

Contains fulltext : 218165.pdf (Publisher’s version ) (Closed access), Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of Israeli IRD patients. To date, we recruited 2,420 families including 3,413 individuals with IRDs. On the basis of our estimation, these patients represent approximately 40% of Israeli IRD patients. To the best of our knowledge, this is, by far, the largest reported IRD cohort, and one of the first studies addressing the genetic analysis of IRD patients on a nationwide scale. The most common inheritance pattern in our cohort is autosomal recessive (60% of families). The most common retinal phenotype is retinitis pigmentosa (43%), followed by Stargardt disease and cone/cone-rod dystrophy. We identified the cause of disease in 56% of the families. Overall, 605 distinct mutations were identified, of which 12% represent prevalent founder mutations. The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications for molecular diagnosis, genetic screening, and counseling, as well as for the development of new therapeutic strategies for retinal diseases.

Published
2020

27. Basic aspect of genetic in hair growth

Author

Betz, R. C., Levy-Nissenbaum, E., Frydman, M., Simon, M., Bygum, A., Toribio, J., Kruse, R., Just, M., Ferrandiz, C., Serre, G., Pras, E., and Nöthen, M. M.

Published
2003

28. Adjuvant chemoradiotherapy versus radiotherapy alone for women with high-risk endometrial cancer (PORTEC-3): final results of an international, open-label, multicentre, randomised, phase 3 trial

Author

de Boer S. M., Powell M. E., Mileshkin L., Katsaros D., Bessette P., Haie-Meder C., Ottevanger P. B., Ledermann J. A., Khaw P., Colombo A., Fyles A., Baron M. -H., Jurgenliemk-Schulz I. M., Kitchener H. C., Nijman H. W., Wilson G., Brooks S., Carinelli S., Provencher D., Hanzen C., Lutgens L. C. H. W., Smit V. T. H. B. M., Singh N., Do V., D'Amico R., Nout R. A., Feeney A., Verhoeven-Adema K. W., Putter H., Creutzberg C. L., McCormack M., Whitmarsh K., Allerton R., Gregory D., Symonds P., Hoskin P. J., Adusumalli M., Anand A., Wade R., Stewart A., Taylor W., Kruitwagen R. F. P. M., Hollema H., Pras E., Snyers A., Stalpers L., Jobsen J. J., Slot A., Mens J. -W. M., Stam T. C., Van Triest B., Van der Steen - Banasik E. M., De Winter K. A. J., Quinn M. A., Kolodziej I., Pyman J., Johnson C., Capp A., Fossati R., Gribaudo S., Lissoni A. A., Ferrero A., Artioli G., Davidson C., McLachlin C. M., Ghatage P., Rittenberg P. V. C., Souhami L., Thomas G., Duvillard P., Berton-Rigaud D., Tubiana-Mathieu N., de Boer, S, Powell, M, Mileshkin, L, Katsaros, D, Bessette, P, Haie-Meder, C, Ottevanger, P, Ledermann, J, Khaw, P, Colombo, A, Fyles, A, Baron, M, Jurgenliemk-Schulz, I, Kitchener, H, Nijman, H, Wilson, G, Brooks, S, Carinelli, S, Provencher, D, Hanzen, C, Lutgens, L, Smit, V, Singh, N, Do, V, D'Amico, R, Nout, R, Feeney, A, Verhoeven-Adema, K, Putter, H, Creutzberg, C, Mccormack, M, Whitmarsh, K, Allerton, R, Gregory, D, Symonds, P, Hoskin, P, Adusumalli, M, Anand, A, Wade, R, Stewart, A, Taylor, W, Kruitwagen, R, Hollema, H, Pras, E, Snyers, A, Stalpers, L, Jobsen, J, Slot, A, Mens, J, Stam, T, Van Triest, B, Van der Steen - Banasik, E, De Winter, K, Quinn, M, Kolodziej, I, Pyman, J, Johnson, C, Capp, A, Fossati, R, Gribaudo, S, Lissoni, A, Ferrero, A, Artioli, G, Davidson, C, Mclachlin, C, Ghatage, P, Rittenberg, P, Souhami, L, Thomas, G, Duvillard, P, Berton-Rigaud, D, and Tubiana-Mathieu, N

Subjects
Canada, Antineoplastic Combined Chemotherapy Protocol, Paclitaxel, Time Factor, Risk Factor, Australia, Chemoradiotherapy, Adjuvant, Middle Aged, Carboplatin, Europe, Treatment Outcome, Gynecologic Surgical Procedures, Lymph Node Excision, Endometrial Neoplasm, Female, Radiotherapy, Adjuvant, Dose Fractionation, Radiation, Cisplatin, Neoplasm Grading, Carcinoma, Endometrioid, Aged, Human, Neoplasm Staging, New Zealand
Abstract

Background: Although women with endometrial cancer generally have a favourable prognosis, those with high-risk disease features are at increased risk of recurrence. The PORTEC-3 trial was initiated to investigate the benefit of adjuvant chemotherapy during and after radiotherapy (chemoradiotherapy) versus pelvic radiotherapy alone for women with high-risk endometrial cancer. Methods: PORTEC-3 was an open-label, international, randomised, phase 3 trial involving 103 centres in six clinical trials collaborating in the Gynaecological Cancer Intergroup. Eligible women had high-risk endometrial cancer with FIGO 2009 stage I, endometrioid-type grade 3 with deep myometrial invasion or lymph-vascular space invasion (or both), endometrioid-type stage II or III, or stage I to III with serous or clear cell histology. Women were randomly assigned (1:1) to receive radiotherapy alone (48·6 Gy in 1·8 Gy fractions given on 5 days per week) or radiotherapy and chemotherapy (consisting of two cycles of cisplatin 50 mg/m2 given during radiotherapy, followed by four cycles of carboplatin AUC5 and paclitaxel 175 mg/m2) using a biased-coin minimisation procedure with stratification for participating centre, lymphadenectomy, stage of cancer, and histological type. The co-primary endpoints were overall survival and failure-free survival. We used the Kaplan-Meier method, log-rank test, and Cox regression analysis for final analysis by intention to treat and adjusted for stratification factors. The study was closed on Dec 20, 2013, after achieving complete accrual; follow-up is ongoing. PORTEC-3 is registered with ISRCTN, number ISRCTN14387080, and ClinicalTrials.gov, number NCT00411138. Results: 686 women were enrolled between Nov 23, 2006, and Dec 20, 2013. 660 eligible patients were included in the final analysis, of whom 330 were assigned to chemoradiotherapy and 330 were assigned to radiotherapy. Median follow-up was 60·2 months (IQR 48·1–73·1). 5-year overall survival was 81·8% (95% CI 77·5–86·2) with chemoradiotherapy versus 76·7% (72·1–81·6) with radiotherapy (adjusted hazard ratio [HR] 0·76, 95% CI 0·54–1·06; p=0·11); 5-year failure-free survival was 75·5% (95% CI 70·3–79·9) versus 68·6% (63·1–73·4; HR 0·71, 95% CI 0·53–0·95; p=0·022). Grade 3 or worse adverse events during treatment occurred in 198 (60%) of 330 who received chemoradiotherapy versus 41 (12%) of 330 patients who received radiotherapy (p

Published
2018

31. Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): patterns of recurrence and post-hoc survival analysis of a randomised phase 3 trial

Author

de Boer, Stephanie M, primary, Powell, Melanie E, additional, Mileshkin, Linda, additional, Katsaros, Dionyssios, additional, Bessette, Paul, additional, Haie-Meder, Christine, additional, Ottevanger, Petronella B, additional, Ledermann, Jonathan A, additional, Khaw, Pearly, additional, D'Amico, Romerai, additional, Fyles, Anthony, additional, Baron, Marie-Helene, additional, Jürgenliemk-Schulz, Ina M, additional, Kitchener, Henry C, additional, Nijman, Hans W, additional, Wilson, Godfrey, additional, Brooks, Susan, additional, Gribaudo, Sergio, additional, Provencher, Diane, additional, Hanzen, Chantal, additional, Kruitwagen, Roy F, additional, Smit, Vincent T H B M, additional, Singh, Naveena, additional, Do, Viet, additional, Lissoni, Andrea, additional, Nout, Remi A, additional, Feeney, Amanda, additional, Verhoeven-Adema, Karen W, additional, Putter, Hein, additional, Creutzberg, Carien L, additional, McCormack, M, additional, Whitmarsh, K, additional, Allerton, R, additional, Gregory, D, additional, Symonds, P, additional, Hoskin, PJ, additional, Adusumalli, M, additional, Anand, A, additional, Wade, R, additional, Stewart, A, additional, Taylor, W, additional, Lutgens, LCHW, additional, Hollema, H, additional, Pras, E, additional, Snyers, A, additional, Westerveld, GH, additional, Jobsen, JJ, additional, Slot, A, additional, Mens, JM, additional, Stam, TC, additional, Van Triest, B, additional, Van der Steen-Banasik, EM, additional, De Winter, KAJ, additional, Quinn, MA, additional, Kolodziej, I, additional, Pyman, J, additional, Johnson, C, additional, Capp, A, additional, Fossati, R, additional, Colombo, A, additional, Carinelli, S, additional, Ferrero, A, additional, Artioli, G, additional, Davidson, C, additional, McLachlin, CM, additional, Ghatage, P, additional, Rittenberg, PVC, additional, Souhami, L, additional, Thomas, G, additional, Duvillard, P, additional, Berton-Rigaud, D, additional, and Tubiana-Mathieu, N, additional

Published
2019
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35. Ductular reaction cells promote angiogenesis via SLIT2/ROBO1 pathway in chronic liver disease

Author

Coll, M., primary, Garcia-Pras, E., additional, Aguilar-Bravo, B., additional, Gallego, J., additional, Blaya, D., additional, Vallverdú, J., additional, Perea, L., additional, Graupera, I., additional, Pose, E., additional, Lozano, J., additional, Bataller, R., additional, Ginès, P., additional, Geng, J.-G., additional, Fernandez, M., additional, and Sancho-Bru, P., additional

Published
2018
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36. Outcome of Nonsurgical Management of Extra-Abdominal, Trunk, and Abdominal Wall Desmoid-Type Fibromatosis: A Population-Based Study in the Netherlands

Author

Broekhoven, D.L.M. van, Verschoor, A.J., Dalen, T. van, Grunhagen, D.J., Bakker, M.A. den, Gelderblom, H., Bovee, J., Haas, R.L.M., Bonenkamp, H., Coevorden, F. van, Oever, D. Ten, Graaf, W.T.A. van der, Flucke, U.E., Pras, E., Reyners, A.K., Westermann, A.M., Oldenburger, F., Verhoef, C., Steeghs, N., Broekhoven, D.L.M. van, Verschoor, A.J., Dalen, T. van, Grunhagen, D.J., Bakker, M.A. den, Gelderblom, H., Bovee, J., Haas, R.L.M., Bonenkamp, H., Coevorden, F. van, Oever, D. Ten, Graaf, W.T.A. van der, Flucke, U.E., Pras, E., Reyners, A.K., Westermann, A.M., Oldenburger, F., Verhoef, C., and Steeghs, N.

Abstract

Contains fulltext : 196649.pdf (publisher's version ) (Open Access), Introduction: Nonsurgical management of patients with desmoid-type fibromatosis (DF) is increasing. This study tries to provide insight on type, usage, and outcome of first-line nonsurgical management strategies. Patients and Methods: From the Dutch Pathology Registry (PALGA), patients with extra-abdominal or trunk/abdominal wall DF, diagnosed between 1993 and 2013, were identified. First-line treatment was analyzed. Best response (BR) using RECIST criteria from start of treatment/surveillance until change of treatment or last follow-up was analyzed. Results: Ninety-one of the 1141 identified patients had first-line nonsurgical management. The percentage of patients treated nonsurgically increased from 0.6% in 1993-1998 to 12.8% in 2009-2013. Thirty-seven patients had surveillance (41%), 35 radiotherapy (38%), and 19 systemic treatment (21%). BR for surveillance was complete response (CR) in 2/37, partial response (PR) in 4/37, stable disease (SD) in 21/37, progressive disease (PD) in 5/37, and unknown in 5/37 patients. BR for radiotherapy was CR in 4/35, PR in 11/35, SD in 16/35, and unknown in 4/35. BR for systemic treatment was CR in 1/19, PR in 1/19, SD in 10/19, PD in 2/19, and unknown in 5/19. Totally, 91% of patients did not progress. Discussion: Given the low percentage (9%) of PD of nonsurgical management, these data can be used in shared decision making with the patient regarding optimal treatment.

Published
2018

37. FIFTEEN-YEAR RADIOTHERAPY OUTCOMES OF THE RANDOMIZED PORTEC-1 TRIAL FOR ENDOMETRIAL CARCINOMA

Author

Creutzberg, C.L., Nout, R.A., Lybeert, M.L.M., Warlam-Rodenhuis, C.C., Jobsen, J.J., Mens, J.W.M., Lutgens, L.C.H.W., Pras, E., Poll-Franse, L.V. van de, Putten, W.L.J. van, PORTEC Study Grp, Medical and Clinical Psychology, Radiotherapie, and RS: GROW - School for Oncology and Reproduction

Subjects
Oncology, Cancer Research, INTERMEDIATE-RISK, medicine.medical_treatment, ComputingMilieux_LEGALASPECTSOFCOMPUTING, GYNECOLOGIC-ONCOLOGY-GROUP, law.invention, ADJUVANT CHEMOTHERAPY, POSTOPERATIVE RADIOTHERAPY, Quality of life, Randomized controlled trial, QUALITY-OF-LIFE, law, Stage (cooking), Aged, 80 and over, Radiation, Neoplasms, Second Primary, PHASE-III TRIAL, Middle Aged, Prognosis, LYMPHVASCULAR SPACE INVOLVEMENT, Radiation therapy, Treatment Outcome, Radiology Nuclear Medicine and imaging, Female, Randomized trial, PELVIC RADIATION-THERAPY, Adult, Risk, medicine.medical_specialty, Vaginal Neoplasms, Breast Neoplasms, Endometrial carcinoma, Prognostic factors, Disease-Free Survival, Stage ib, Internal medicine, Carcinoma, medicine, Humans, Radiology, Nuclear Medicine and imaging, External beam radiotherapy, Aged, Analysis of Variance, Intention-to-treat analysis, business.industry, medicine.disease, Long-term outcome, Endometrial Neoplasms, Surgery, CANCER MRC ASTEC, EXTERNAL-BEAM RADIOTHERAPY, Neoplasm Grading, Neoplasm Recurrence, Local, business
Abstract

Purpose: To evaluate the very long-term results of the randomized Post Operative Radiation Therapy in Endometrial Carcinoma (PORTEC)-1 trial for patients with Stage I endometrial carcinoma (EC), focusing on the role of prognostic factors for treatment selection and the long-term risk of second cancers.Patients and Methods: The PORTEC trial (1990-1997) included 714 patients with Stage IC Grade 1-2 or Stage IB Grade 2-3 EC. After surgery, patients were randomly allocated to external-beam pelvic radiotherapy (EBRT) or no additional treatment (NAT). Analysis was by intention to treat.Results: 426 patients were alive at the date of analysis. The median follow-up time was 13.3 years. The 15-year actuarial locoregional recurrence (LRR) rates were 6% for EBRT vs. 15.5% for NAT (p 60 (HR 3.9, p = 0.002 for LRR and 2.7, p = 0.01 for EC death) and myometrial invasion > 50% (HR 1.9, p = 0.03 and HR 1.9, p = 0.02).Conclusions: The 15-year outcomes of PORTEC-1 confirm the relevance of HIR criteria for treatment selection, and a trend for long-term risk of second cancers. EBRT should be avoided in patients with low-and intermediate-risk EC. (C) 2011 Elsevier Inc.

Published
2011
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42. Treatment of cervical cancer

Author

Green, John A, Maduro, J H, Pras, E, Vries, E G E de, Willemse, P H B, Burger, Curt W, Lutgens, Ludovicus C H W, Koper, Peter C M, and Zee, Jacoba van der

Subjects
Cervical cancer -- Care and treatment, Radiotherapy -- Evaluation, Chemotherapy -- Evaluation
Published
2002

44. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Author

Feliubadaló, L., Font, M., Purroy, J., Rousaud, F., Estivill, X., Nunes, V., Golomb, E., Centola, M., Aksentijevich, I., Kreiss, Y., Goldman, B., Pras, M., Kastner, D. L., Pras, E., Gasparini, P., Bisceglia, L., Beccia, E., Gallucci, M., Sanctis, L. d., Ponzone, A., Rizzoni, G. F., Zelante, L., Bassi, M. T., George, A. L., Manzoni, Marta, Grandi, A. D., Riboni, M., Endsley, J. K., Ballabio, A., Borsani, Giuseppe, Reig, N., Fernández, E., Estévez, R., Pineda, M., Torrents, D., Camps, M., Lloberas, J., Zorzano, A., Palacín, M., and Consortium, I. C.

Subjects
Male, Amino Acid Transport Systems, Sequence Homology, chemistry.chemical_compound, Models, Complementary, Missense mutation, Tissue Distribution, Frameshift Mutation, Genetics, Membrane Glycoproteins, COS cells, Cystinuria, Basic, Carrier Proteins, Mutation, Missense, Pedigree, Amino Acid, Italy, COS Cells, Female, Human, DNA, Complementary, Protein subunit, Molecular Sequence Data, Mutation, Missense, Cystine, Libya, Biology, Models, Biological, Chromosomes, Frameshift mutation, medicine, Animals, Humans, Amino Acid Sequence, Amino acid transporter, Gene, Pair 19, DNA, Jews, Biological, North America, Spain, Sequence Homology, Amino Acid, medicine.disease, Molecular biology, chemistry, Amino Acid Transport Systems, Basic, Chromosomes, Human, Pair 19
Abstract

Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation causes non-type I cystinuria has been mapped by linkage analysis to 19q12-13.1 (Refs 3,4). We have identified a new transcript, encoding a protein (bo, +AT, for bo,+ amino acid transporter) belonging to a family of light subunits of amino acid transporters, expressed in kidney, liver, small intestine and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q locus. Co-transfection of bo,+AT and rBAT brings the latter to the plasma membrane, and results in the uptake of L-arginine in COS cells. We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. The Libyan Jewish patients are homozygous for a founder missense mutation (V170M) that abolishes b o,+AT amino-acid uptake activity when co-transfected with rBAT in COS cells. We identified four missense mutations (G105R, A182T, G195R and G295R) and two frameshift (520insT and 596delTG) mutations in other patients. Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT.

Published
1999
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45. Vulva

Author

Oonk, M. H. M., primary, Pras, E., additional, and Zee, A. G. J., additional

Published
2017
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46. Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]

Author

EMRE ZAFER, Meck, J., Gerrad, L., Pras, E., Frydman, M., Reish, O., and Avni, I.

Subjects
Chromosome Segregation, Jews, Infant, Newborn, Chromosomes, Human, Pair 5, Humans, Chromosomes, Human, Pair 3, Libya, Cataract, Translocation, Genetic, Research Article, Genes, Dominant, Pedigree
Abstract

Purpose To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. Methods Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. Results Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. Conclusions These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.

Published
2008

49. A role forTENM1mutations in congenital general anosmia

Author

Alkelai, A., primary, Olender, T., additional, Haffner-Krausz, R., additional, Tsoory, M.M., additional, Boyko, V., additional, Tatarskyy, P., additional, Gross-Isseroff, R., additional, Milgrom, R., additional, Shushan, S., additional, Blau, I., additional, Cohn, E., additional, Beeri, R., additional, Levy-Lahad, E., additional, Pras, E., additional, and Lancet, D., additional

Published
2016
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