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1. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Author: Vandriel, S, Li, L, She, H, Wang, J, Gilbert, M, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, E, Jacquemin, E, Bouligand, J, Spinner, N, Loomes, K, Piccoli, D, D'Antiga, L, Nicastro, E, Sokal, A, Demaret, T, Ebel, N, Feinstein, J, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S, Romero, R, Kim, K, Baek, W, Hardikar, W, Shankar, S, Roberts, A, Evans, H, Jensen, M, Kavan, M, Sundaram, S, Chaidez, A, Karthikeyan, P, Sanchez, M, Cavalieri, M, Verkade, H, Lee, W, Squires, J, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, H, Bernabeu, J, Alam, S, Kelly, D, Carvalho, E, Ferreira, C, Indolfi, G, Quiros-Tejeira, R, Bulut, P, Calvo, P, Anal, Z, Valentino, P, Desai, D, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, R, Wolters, V, Tamara, M, Zizzo, A, Garcia, J, Schwarz, K, Beretta, M, Sandahl, T, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, C, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, R, Hansen, B, Kamath, B, Vandriel S. M., Li L. -T., She H., Wang J. -S., Gilbert M. A., Jankowska I., Czubkowski P., Gliwicz-Miedzinska D., Gonzales E. M., Jacquemin E., Bouligand J., Spinner N. B., Loomes K. M., Piccoli D. A., D'Antiga L., Nicastro E., Sokal A., Demaret T., Ebel N. H., Feinstein J. A., Fawaz R., Nastasio S., Lacaille F., Debray D., Arnell H., Fischler B., Siew S., Stormon M., Karpen S. J., Romero R., Kim K. M., Baek W. Y., Hardikar W., Shankar S., Roberts A. J., Evans H. M., Jensen M. K., Kavan M., Sundaram S. S., Chaidez A., Karthikeyan P., Sanchez M. C., Cavalieri M. L., Verkade H. J., Lee W. S., Squires J. E., Hajinicolaou C., Lertudomphonwanit C., Fischer R. T., Larson-Nath C., Mozer-Glassberg Y., Arikan C., Lin H. C., Bernabeu J. Q., Alam S., Kelly D. A., Carvalho E., Ferreira C. T., Indolfi G., Quiros-Tejeira R. E., Bulut P., Calvo P. L., Anal Z., Valentino P. L., Desai D. M., Eshun J., Rogalidou M., Dezsofi A., Wiecek S., Nebbia G., Pinto R. B., Wolters V. M., Tamara M. L., Zizzo A. N., Garcia J., Schwarz K., Beretta M., Sandahl T. D., Jimenez-Rivera C., Kerkar N., Brecelj J., Mujawar Q., Rock N., Busoms C. M., Karnsakul W., Lurz E., Santos-Silva E., Blondet N., Bujanda L., Shah U., Thompson R. J., Hansen B. E., Kamath B. M., Vandriel, S, Li, L, She, H, Wang, J, Gilbert, M, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, E, Jacquemin, E, Bouligand, J, Spinner, N, Loomes, K, Piccoli, D, D'Antiga, L, Nicastro, E, Sokal, A, Demaret, T, Ebel, N, Feinstein, J, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S, Romero, R, Kim, K, Baek, W, Hardikar, W, Shankar, S, Roberts, A, Evans, H, Jensen, M, Kavan, M, Sundaram, S, Chaidez, A, Karthikeyan, P, Sanchez, M, Cavalieri, M, Verkade, H, Lee, W, Squires, J, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, H, Bernabeu, J, Alam, S, Kelly, D, Carvalho, E, Ferreira, C, Indolfi, G, Quiros-Tejeira, R, Bulut, P, Calvo, P, Anal, Z, Valentino, P, Desai, D, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, R, Wolters, V, Tamara, M, Zizzo, A, Garcia, J, Schwarz, K, Beretta, M, Sandahl, T, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, C, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, R, Hansen, B, Kamath, B, Vandriel S. M., Li L. -T., She H., Wang J. -S., Gilbert M. A., Jankowska I., Czubkowski P., Gliwicz-Miedzinska D., Gonzales E. M., Jacquemin E., Bouligand J., Spinner N. B., Loomes K. M., Piccoli D. A., D'Antiga L., Nicastro E., Sokal A., Demaret T., Ebel N. H., Feinstein J. A., Fawaz R., Nastasio S., Lacaille F., Debray D., Arnell H., Fischler B., Siew S., Stormon M., Karpen S. J., Romero R., Kim K. M., Baek W. Y., Hardikar W., Shankar S., Roberts A. J., Evans H. M., Jensen M. K., Kavan M., Sundaram S. S., Chaidez A., Karthikeyan P., Sanchez M. C., Cavalieri M. L., Verkade H. J., Lee W. S., Squires J. E., Hajinicolaou C., Lertudomphonwanit C., Fischer R. T., Larson-Nath C., Mozer-Glassberg Y., Arikan C., Lin H. C., Bernabeu J. Q., Alam S., Kelly D. A., Carvalho E., Ferreira C. T., Indolfi G., Quiros-Tejeira R. E., Bulut P., Calvo P. L., Anal Z., Valentino P. L., Desai D. M., Eshun J., Rogalidou M., Dezsofi A., Wiecek S., Nebbia G., Pinto R. B., Wolters V. M., Tamara M. L., Zizzo A. N., Garcia J., Schwarz K., Beretta M., Sandahl T. D., Jimenez-Rivera C., Kerkar N., Brecelj J., Mujawar Q., Rock N., Busoms C. M., Karnsakul W., Lurz E., Santos-Silva E., Blondet N., Bujanda L., Shah U., Thompson R. J., Hansen B. E., and Kamath B. M.
Abstract: Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. Approach and Results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced ≥1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those ≥10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those <5.0 mg/dl. Median TB levels between ≥5.0 and <10.0 mg/dl and >10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to ≥5.0 mg/dl, with 79% reaching adulthood with native liver (p < 0.001). Conclusions: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies.
Published: 2023

2. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Author: Averdunk, L., Huetzen, M.A., Moreno-Andrés, D., Kalb, R., McKee, S., Hsieh, T.C., Seibt, A., Schouwink, M., Lalani, S., Faqeih, E.A., Brunet, T., Boor, P., Neveling, K., Hoischen, A., Hildebrandt, B., Graf, E., Lu, L., Jin, W., Schaper, J., Omer, J.A., Demaret, T., Fleischer, N., Schindler, D., Krawitz, P., Mayatepek, E., Wieczorek, D., Wang, L.L., Antonin, W., Jachimowicz, R.D., Felbert, V. von, Distelmaier, F., Averdunk, L., Huetzen, M.A., Moreno-Andrés, D., Kalb, R., McKee, S., Hsieh, T.C., Seibt, A., Schouwink, M., Lalani, S., Faqeih, E.A., Brunet, T., Boor, P., Neveling, K., Hoischen, A., Hildebrandt, B., Graf, E., Lu, L., Jin, W., Schaper, J., Omer, J.A., Demaret, T., Fleischer, N., Schindler, D., Krawitz, P., Mayatepek, E., Wieczorek, D., Wang, L.L., Antonin, W., Jachimowicz, R.D., Felbert, V. von, and Distelmaier, F.
Abstract: 01 juli 2023, Item does not contain fulltext, PURPOSE: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT (OMIM 615789). METHODS: Two newly identified and 4 published individuals with CRIPT variants were systematically compared with those with RTS using clinical data, computational analysis of photographs, histologic analysis of skin, and cellular studies on fibroblasts. RESULTS: All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. Using computational gestalt analysis, CRIPT individuals showed greatest facial similarity with individuals with RTS. Skin biopsies revealed a high expression of senescence markers (p53/p16/p21) and the senescence-associated ß-galactosidase activity was elevated in CRIPT-deficient fibroblasts. RECQL4- and CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors and no or only mild sensitivity to genotoxic stress by ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate. CONCLUSION: CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. At the cellular level, RECQL4- and CRIPT-deficient cells display increased senescence, suggesting shared molecular mechanisms leading to the clinical phenotypes.
Published: 2023

3. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Author: Vandriel, SM, Li, L-T, She, H, Wang, J-S, Gilbert, MA, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, EM, Jacquemin, E, Bouligand, J, Spinner, NB, Loomes, KM, Piccoli, DA, D'Antiga, L, Nicastro, E, Sokal, E, Demaret, T, Ebel, NH, Feinstein, JA, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, SJ, Romero, R, Kim, KM, Baek, WY, Hardikar, W, Shankar, S, Roberts, AJ, Evans, HM, Jensen, MK, Kavan, M, Sundaram, SS, Chaidez, A, Karthikeyan, P, Sanchez, MC, Cavalieri, ML, Verkade, HJ, Lee, WS, Squires, JE, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, RT, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, HC, Bernabeu, JQ, Alam, S, Kelly, DA, Carvalho, E, Ferreira, CT, Indolfi, G, Quiros-Tejeira, RE, Bulut, P, Calvo, PL, Onal, Z, Valentino, PL, Desai, DM, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, RB, Wolters, VM, Tamara, ML, Zizzo, AN, Garcia, J, Schwarz, K, Beretta, M, Sandahl, TD, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, CM, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, RJ, Hansen, BE, Kamath, BM, Vandriel, SM, Li, L-T, She, H, Wang, J-S, Gilbert, MA, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, EM, Jacquemin, E, Bouligand, J, Spinner, NB, Loomes, KM, Piccoli, DA, D'Antiga, L, Nicastro, E, Sokal, E, Demaret, T, Ebel, NH, Feinstein, JA, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, SJ, Romero, R, Kim, KM, Baek, WY, Hardikar, W, Shankar, S, Roberts, AJ, Evans, HM, Jensen, MK, Kavan, M, Sundaram, SS, Chaidez, A, Karthikeyan, P, Sanchez, MC, Cavalieri, ML, Verkade, HJ, Lee, WS, Squires, JE, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, RT, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, HC, Bernabeu, JQ, Alam, S, Kelly, DA, Carvalho, E, Ferreira, CT, Indolfi, G, Quiros-Tejeira, RE, Bulut, P, Calvo, PL, Onal, Z, Valentino, PL, Desai, DM, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, RB, Wolters, VM, Tamara, ML, Zizzo, AN, Garcia, J, Schwarz, K, Beretta, M, Sandahl, TD, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, CM, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, RJ, Hansen, BE, and Kamath, BM
Abstract: BACKGROUND AND AIMS: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. APPROACH AND RESULTS: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced ≥1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those ≥10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those <5.0 mg/dl. Median TB levels between ≥5.0 and <10.0 mg/dl and >10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to ≥5.0 mg/dl, with 79% reaching adulthood with native liver ( p < 0.001). CONCLUSIONS: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies.
Published: 2022

4. Natural history of liver disease in a large international cohort of children with Alagille syndrome: results from The GALA Study

Author: Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Vandriel, S.M.; Li, L.T.; She, H.; Wang, J.S.; Gilbert, M.A.; Jankowska, I.; Czubkowski, P.; Gliwicz-Miedzi?ska, D.; Gonzales, E.M.; Jacquemin, E.; Bouligand, J.; Spinner, N.B.; Loomes, K.M.; Piccoli, D.A.; D'Antiga, L.; Nicastro, E.; Sokal, É.; Demaret, T.; Ebel, N.H.; Feinstein, J.A.; Fawaz, R.; Nastasio, S.; Lacaille, F.; Debray, D.; Arnell, H.; Fischler, B.; Siew, S.; Stormon, M.; Karpen, S.J.; Romero, R.; Kim, K.M.; Baek, W.Y.; Hardikar, W.; Shankar, S.; Roberts, A.J.; Evans, H.M.; Jensen, M.K.; Kavan, M.; Sundaram, S.S.; Chaidez, A.; Karthikeyan, P.; Sanchez, M.C.; Cavalieri, M.L.; Verkade, H.J.; Lee, W.S.; Squires, J.E.; Hajinicolaou, C.; Lertudomphonwanit, C.; Fischer, R.T.; Larson-Nath, C.; Mozer-Glassberg, Y.; Lin, H.C.; Quintero, Bernabeu J.; Alam, S.; Kelly, D.; Carvalho, E.; Ferreira, C.T.; Indolfi, G.; Quiros-Tejeira, R.E.; Bulut, P.; Calvo, P.L.; Önal, Z.; Valentino, P.L.; Desai, D.M.; Eshun, J.; Rogalidou, M.; Dezs?fi, A.; Wiecek, S.; Nebbia, G.; Borges Pinto, R.; Wolters, V.M.; Tamara, M.L.; Zizzo, A.N.; Garcia, J.; Schwarz, K.; Beretta, M.; Sandahl, T.D.; Jimenez-Rivera, C.; Kerkar, N.; Brecelj, J.; Mujawar, Q.; Rock, N.; Busoms, C.M.; Karnsakul, W.; Lurz, E.; Santos-Silva, E.; Blondet, N.; Bujanda, L.; Shah, U.; Thompson, R.J.; Hansen, B.E.; Kamath, B.M.; Global ALagille Alliance (GALA) Study Group, Koç University Hospital, School of Medicine, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Vandriel, S.M.; Li, L.T.; She, H.; Wang, J.S.; Gilbert, M.A.; Jankowska, I.; Czubkowski, P.; Gliwicz-Miedzi?ska, D.; Gonzales, E.M.; Jacquemin, E.; Bouligand, J.; Spinner, N.B.; Loomes, K.M.; Piccoli, D.A.; D'Antiga, L.; Nicastro, E.; Sokal, É.; Demaret, T.; Ebel, N.H.; Feinstein, J.A.; Fawaz, R.; Nastasio, S.; Lacaille, F.; Debray, D.; Arnell, H.; Fischler, B.; Siew, S.; Stormon, M.; Karpen, S.J.; Romero, R.; Kim, K.M.; Baek, W.Y.; Hardikar, W.; Shankar, S.; Roberts, A.J.; Evans, H.M.; Jensen, M.K.; Kavan, M.; Sundaram, S.S.; Chaidez, A.; Karthikeyan, P.; Sanchez, M.C.; Cavalieri, M.L.; Verkade, H.J.; Lee, W.S.; Squires, J.E.; Hajinicolaou, C.; Lertudomphonwanit, C.; Fischer, R.T.; Larson-Nath, C.; Mozer-Glassberg, Y.; Lin, H.C.; Quintero, Bernabeu J.; Alam, S.; Kelly, D.; Carvalho, E.; Ferreira, C.T.; Indolfi, G.; Quiros-Tejeira, R.E.; Bulut, P.; Calvo, P.L.; Önal, Z.; Valentino, P.L.; Desai, D.M.; Eshun, J.; Rogalidou, M.; Dezs?fi, A.; Wiecek, S.; Nebbia, G.; Borges Pinto, R.; Wolters, V.M.; Tamara, M.L.; Zizzo, A.N.; Garcia, J.; Schwarz, K.; Beretta, M.; Sandahl, T.D.; Jimenez-Rivera, C.; Kerkar, N.; Brecelj, J.; Mujawar, Q.; Rock, N.; Busoms, C.M.; Karnsakul, W.; Lurz, E.; Santos-Silva, E.; Blondet, N.; Bujanda, L.; Shah, U.; Thompson, R.J.; Hansen, B.E.; Kamath, B.M.; Global ALagille Alliance (GALA) Study Group, Koç University Hospital, and School of Medicine
Abstract: Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. Approach and results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced >= 1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and <= 12 months) with median total bilirubin (TB) levels between >= 5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those >= 10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those 10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to >= 5.0 mg/dl, with 79% reaching adulthood with native liver (p < 0.001). Conclusions: in this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies., This study received funding support from the following agencies: The Alagille Syndrome Alliance, Mirum Pharmaceuticals Inc. and Albireo Pharma, Inc. who provided unrestricted educational grants to the Hospital for Sick Children (SickKids Foundation). The study sponsors were not involved in the conduct of the research study or preparation of the manuscript.
Published: 2022

5. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Author: Théry, C, Witwer, KW, Aikawa, E, Alcaraz, MJ, Anderson, JD, Andriantsitohaina, R, Antoniou, A, Arab, T, Archer, F, Atkin-Smith, GK, Ayre, DC, Bach, JM, Bachurski, D, Baharvand, H, Balaj, L, Baldacchino, S, Bauer, NN, Baxter, AA, Bebawy, M, Beckham, C, Bedina Zavec, A, Benmoussa, A, Berardi, AC, Bergese, P, Bielska, E, Blenkiron, C, Bobis-Wozowicz, S, Boilard, E, Boireau, W, Bongiovanni, A, Borràs, FE, Bosch, S, Boulanger, CM, Breakefield, X, Breglio, AM, Brennan, M, Brigstock, DR, Brisson, A, Broekman, MLD, Bromberg, JF, Bryl-Górecka, P, Buch, S, Buck, AH, Burger, D, Busatto, S, Buschmann, D, Bussolati, B, Buzás, EI, Byrd, JB, Camussi, G, Carter, DRF, Caruso, S, Chamley, LW, Chang, YT, Chaudhuri, AD, Chen, C, Chen, S, Cheng, L, Chin, AR, Clayton, A, Clerici, SP, Cocks, A, Cocucci, E, Coffey, RJ, Cordeiro-da-Silva, A, Couch, Y, Coumans, FAW, Coyle, B, Crescitelli, R, Criado, MF, D’Souza-Schorey, C, Das, S, de Candia, P, De Santana, EF, De Wever, O, del Portillo, HA, Demaret, T, Deville, S, Devitt, A, Dhondt, B, Di Vizio, D, Dieterich, LC, Dolo, V, Dominguez Rubio, AP, Dominici, M, Dourado, MR, Driedonks, TAP, Duarte, FV, Duncan, HM, Eichenberger, RM, Ekström, K, EL Andaloussi, S, Elie-Caille, C, Erdbrügger, U, Falcón-Pérez, JM, Fatima, F, Fish, JE, Flores-Bellver, M, Försönits, A, Frelet-Barrand, A, and HIPS, Helmholtz-Institut für Pharmazeutische Forschung Saarland, Universitätscampus E8.1 66123 Saarbrücken, Germany.
Subjects: ectosomes, microparticles, standardization, minimal information requirements, exosomes, guidelines, Biochemistry and Cell Biology, extracellular vesicles, microvesicles, reproducibility, rigor
Abstract: © 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group on behalf of The International Society for Extracellular Vesicles. The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles (“MISEV”) guidelines for the field in 2014. We now update these “MISEV2014” guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
Published: 2019

6. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome

Author: ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, and UCL - (SLuc) Service d'ophtalmologie
Subjects: and Child Health, Gastroenterology, Pediatrics, Perinatology
Abstract: Objectives and Study: Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille syndrome (AS), of which embryotoxon, pseudo-papilledema (PPO), and pigmentary retinopathy are the most common. Papilledema (PO), with or without intracranial hypertension (ICHT)/pseudotumor cerebri syndrome (PTCS), are rarely described. We here report 9 cases of bilateral PO in an AS cohort, 5 of whom were diagnosed with PTCS that occurred after liver transplantation. Methods: We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n = 48) and/or genetically (n = 37) proven AS, who were followed in 2 referral hospitals (UCL St Luc Brussels, n = 75; HUG Geneva, n = 10). Patients who received liver transplantation (LT) (n = 40) were compared with pediatric patients (n = 40) with LT for indications other than AS. Results: Sixty-nine patients fulfilled the inclusion criteria; the PO incidence in this cohort was 13% (9/69, 13%). Forty of these patients (40/69, 58%) underwent LT, of whom 2 developed true PO before LT and 6 developed PO after LT (6/40, 15%). One non-LT child (1/28, 3%) had PO, but had a normal neurological examination and rapid resolution. PO resolved spontaneously or remained stable without complications in 4 patients (2 with pre-transplant onset) (4/69, 6%). The remaining 5 patients had a normal neurological examination and cerebral magnetic resonance imaging findings (5/69, 7%). Probable PTCS was diagnosed in 1 patient and definite PCTS was diagnosed in 4 patients. PTCS was treated with steroids alone in 1 patient, and in combination with acetazolamide in 2 patients. In 2 of these 3 patients, ventriculo-peritoneal derivation was ultimately required for severe progressive visual loss. PPO was present in 10 other (10/69, 10%). One patient in the non-AS cohort had PO, yielding an incidence of 2.5% (1/40). Conclusions: True PTCS may be underdiagnosed in AS, but should be considered as a feature of this syndrome. Our findings supports the necessity of close follow-up of ophthalmologic complications before and/or after LT, because of the risk of severe and irreversible loss of vision.
Published: 2019

7. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Author: Thery, C., Witwer, K. (Kenneth), Aikawa, E. (Elena), Alcaraz, M.J. (Maria Jose), Anderson, J.D. (Johnathon D), Andriantsitohaina, R. (Ramaroson), Antoniou, A. (Anna), Arab, T. (Tanina), Archer, F. (Fabienne), Atkin-Smith, G.K. (Georgia K), Ayre, D.C. (D Craig), Bach, J.-M. (Jean-Marie), Bachurski, D. (Daniel), Baharvand, H. (Hossein), Balaj, L. (Leonora), Baldacchino, S. (Shawn), Bauer, N.N. (Natalie N), Baxter, A.A. (Amy A), Bebawy, M. (Mary), Beckham, C. (Carla), Bedina Zavec, A. (Apolonija), Benmoussa, A. (Abderrahim), Berardi, A.C. (Anna C), Bergese, P. (Paolo), Bielska, E. (Ewa), Blenkiron, C. (Cherie), Bobis-Wozowicz, S. (Sylwia), Boilard, E. (Eric), Boireau, W. (Wilfrid), Bongiovanni, A. (Antonella), Borràs, F.E. (Francesc), Bosch, S. (Steffi), Boulanger, C.M. (Chantal), Breakefield, X. (Xandra), Breglio, A.M. (Andrew M), Brennan, M.Á. (Meadhbh Á), Brigstock, D.R. (David R), Brisson, A. (Alain), Broekman, M.L.D. (Marike), Bromberg, J.F. (Jacqueline F), Bryl-Górecka, P. (Paulina), Buch, S. (Shilpa), Buck, A.H. (Amy H), Burger, D. (Dylan), Busatto, S. (Sara), Buschmann, D. (Dominik), Bussolati, B. (Benedetta), Buzas, E. (Edit), Byrd, J.B. (James Bryan), Camussi, G. (Giovanni), Carter, D.R.F. (David RF), Caruso, S. (Sarah), Chamley, L.W. (Lawrence W), Chang, Y.-T. (Yu-Ting), Chaudhuri, A.D. (Amrita Datta), Chen, C. (Chihchen), Chen, S. (Shuai), Cheng, L. (Lesley), Chin, A.R. (Andrew R), Clayton, A. (Aled), Clerici, S.P. (Stefano P), Cocks, A. (Alex), Cocucci, E. (Emanuele), Coffey, R.J. (Robert J), Cordeiro-da-Silva, A. (Anabela), Couch, Y. (Yvonne), Coumans, F.A.W. (Frank AW), Coyle, B. (Beth), Crescitelli, R. (Rossella), Criado, M.F. (Miria Ferreira), D’Souza-Schorey, C. (Crislyn), Das, S. (Saumya), de Candia, P. (Paola), De Santana, E.F. (Eliezer F), De Wever, O. (Olivier), Del Portillo, H. (Hernando), Demaret, T. (Tanguy), Deville, S. (Sarah), Devitt, A. (Andrew), Dhondt, B. (Bert), Di Vizio, D. (Dolores), Dieterich, L.C. (Lothar C), Dolo, V. (Vincenza), Dominguez Rubio, A.P. (Ana Paula), Dominici, M. (Massimo), Dourado, M.R. (Mauricio R), Driedonks, T.A.P. (Tom AP), Duarte, F.V. (Filipe V), Duncan, H.M. (Heather M), Eichenberger, R.M. (Ramon M), Ekström, K. (Karin), EL Andaloussi, S. (Samir), Elie-Caille, C. (Celine), Erdbrügger, U. (Uta), Falcon-Perez, J.M. (Juan), Fatima, F. (Farah), Fish, J.E. (Jason E), Flores-Bellver, M. (Miguel), Försönits, A. (András), Frelet-Barrand, A. (Annie), Fricke, F. (Fabia), Fuhrmann, G. (Gregor), Gabrielsson, S. (Susanne), Gámez-Valero, A. (Ana), Gardiner, C. (Chris), Gärtner, K. (Kathrin), Gaudin, R. (Raphael), Gho, Y.S. (Yong Song), Giebel, B. (B.), Gilbert, C. (Caroline), Gimona, M. (Mario), Giusti, I. (Ilaria), Goberdhan, D.C.I. (Deborah CI), Görgens, A. (André), Gorski, S.M. (Sharon M), Greening, D.W. (David W.), Gross, J.C. (Julia Christina), Gualerzi, A. (Alice), Gupta, G.N. (Gopal N), Gustafson, D. (Dakota), Handberg, A. (Aase), Haraszti, R.A. (Reka A), Harrison, P. (Paul), Hegyesi, H. (Hargita), Hendrix, A. (An), Hill, A.F. (Andrew F), Hochberg, F.H. (Fred H), Hoffmann, K.F. (Karl F), Holder, B. (Beth), Holthofer, H. (Harry), Hosseinkhani, B. (Baharak), Hu, G. (Guoku), Huang, Y. (Yiyao), Huber, V. (Veronica), Hunt, S. (Stuart), Ibrahim, A.G.-E. (Ahmed Gamal-Eldin), Ikezu, T. (Tsuneya), Inal, J.M. (Jameel), Isin, M. (Mustafa), Ivanova, A. (Alena), Jackson, H.K. (Hannah K), Jacobsen, S. (Soren), Jay, S.M. (Steven M), Jayachandran, M. (Muthuvel), Jenster, G.W. (Guido), Jiang, L. (Lanzhou), Johnson, S.M. (Suzanne M), Jones, J.C. (Jennifer C), Jong, A. (Ambrose), Jovanovic-Talisman, T. (Tijana), Jung, S. (Stephanie), Kalluri, R. (Raghu), Kano, S.-I. (Shin-ichi), Kaur, S. (Sukhbir), Kawamura, Y. (Yumi), Keller, E.T. (Evan T), Khamari, D. (Delaram), Khomyakova, E. (Elena), Khvorova, A. (Anastasia), Kierulf, P. (Peter), Kim, K.P. (Kwang Pyo), Kislinger, T. (Thomas), Klingeborn, M. (Mikael), Klinke, D.J. (David J), Kornek, M. (Miroslaw), Kosanović, M.M. (Maja M), Kovács, Á.F. (Árpád Ferenc), Krämer-Albers, E.-M. (Eva-Maria), Krasemann, S. (Susanne), Krause, M. (Mirja), Kurochkin, I.V. (Igor V), Kusuma, G.D. (Gina D), Kuypers, S. (Sören), Laitinen, S. (Saara), Langevin, S.M. (Scott M), Languino, L.R. (Lucia R), Lannigan, J. (Joanne), Lässer, C. (Cecilia), Laurent, L.C. (Louise C), Lavieu, G. (Gregory), Lázaro-Ibáñez, E. (Elisa), Le Lay, S. (Soazig), Lee, M.-S. (Myung-Shin), Lee, Y.X.F. (Yi Xin Fiona), Lemos, D.S. (Debora S), Lenassi, M. (Metka), Leszczynska, A. (Aleksandra), Li, I.T.S. (Isaac TS), Liao, K. (Ke), Libregts, S.F. (Sten), Ligeti, E. (Erzsebet), Lim, R. (Rebecca), Lim, S.K. (Sai Kiang), Linē, A. (Aija), Linnemannstöns, K. (Karen), Llorente, A. (Alicia), Lombard, C.A. (Catherine A), Lorenowicz, M.J. (Magdalena J), Lörincz, Á.M. (Ákos M), Lötvall, J. (Jan), Lovett, J. (Jason), Lowry, M.C. (Michelle C), Loyer, X. (Xavier), Lu, Q. (Quan), Lukomska, B. (Barbara), Lunavat, T.R. (Taral R), Maas, S.L.N. (Sybren), Malhi, H. (Harmeet), Marcilla, A. (Antonio), Mariani, J. (Jacopo), Mariscal, J. (Javier), Martens-Uzunova, E.S. (Elena), Martin-Jaular, L. (Lorena), Martinez, M.C. (M Carmen), Martins, V.R. (Vilma Regina), Mathieu, M. (Mathilde), Mathivanan, S. (Suresh), Maugeri, M. (Marco), McGinnis, L.K. (Lynda K), McVey, M.J. (Mark J), Meckes, D.G. (David G), Meehan, K.L. (Katie L), Mertens, I. (Inge), Minciacchi, V.R. (Valentina R), Möller, A. (Andreas), Møller Jørgensen, M. (Malene), Morales-Kastresana, A. (Aizea), Morhayim, J. (Jess), Mullier, F. (Francois), Muraca, M. (Maurizio), Musante, L. (Luca), Mussack, V. (Veronika), Muth, D.C. (Dillon C), Myburgh, K.H. (Kathryn H), Najrana, T. (Tanbir), Nawaz, M. (Muhammad), Nazarenko, I. (Irina), Nejsum, P. (Peter), Neri, C. (Christian), Neri, T. (Tommaso), Nieuwland, C.C.M. (Carolien) van, Nimrichter, L. (Leonardo), Nolan, J.P. (John P), Nolte-’t Hoen, E.N.M. (Esther NM), Hooten, N.N. (Nicole Noren), O’Driscoll, L. (Lorraine), O’Grady, T. (Tina), O’Loghlen, A. (Ana), Ochiya, T. (Takahiro), Olivier, M. (Martin), Ortiz, A. (Alberto), Ortiz, L.A. (Luis A), Osteikoetxea, X. (Xabier), Ostegaard, O. (Ole), Ostrowski, M. (Matias), Park, J. (Jaesung), Pegtel, D.M. (D. Michiel), Peinado, H. (Hector), Perut, F. (Francesca), Pfaffl, M.W. (Michael W), Phinney, D.G. (Donald G), Pieters, B.C.H. (Bartijn CH), Pink, R.C. (Ryan C), Pisetsky, D.S. (David S), Pogge von Strandmann, E. (Elke), Polakovicova, I. (Iva), Poon, I.K.H. (Ivan KH), Powell, B.H. (Bonita H), Prada, I. (Ilaria), Pulliam, L. (Lynn), Quesenberry, P. (Peter), Radeghieri, A. (Annalisa), Raffai, R.L. (Robert L), Raimondo, S. (Stefania), Rak, J. (Janusz), Ramirez, M.I. (Marcel I.), Raposo, L. (Luís), Rayyan, M.S. (Morsi S), Regev-Rudzki, N. (Neta), Ricklefs, F.L. (Franz L), Robbins, P.D. (Paul D), Roberts, D.D. (David D), Rodrigues, S.C. (Silvia C), Rohde, E. (Eva), Rome, S. (Sophie), Rouschop, K.M.A. (Kasper MA), Rughetti, A. (Aurelia), Russell, A.E. (Ashley E), Saá, P. (Paula), Sahoo, S. (Susmita), Salas-Huenuleo, E. (Edison), Sánchez, C. (Catherine), Saugstad, J.A. (Julie A), Saul, M.J. (Meike J), Schiffelers, R.M. (Raymond), Schneider, R. (Raphael), Schøyen, T.H. (Tine Hiorth), Scott, A. (Aaron), Shahaj, E. (Eriomina), Sharma, S. (Shivani), Shatnyeva, O. (Olga), Shekari, F. (Faezeh), Shelke, G.V. (Ganesh Vilas), Shetty, A.K. (Ashok K), Shiba, K. (Kiyotaka), Siljander, P. (Pia), Silva, A.M. (Andreia M), Skowronek, A. (Agata), Snyder, O.L. (Orman L), Soares, R.P. (Rodrigo Pedro), Sódar, B.W. (Barbara W), Soekmadji, C. (Carolina), Sotillo, J. (Javier), Stahl, P.D. (Philip D), Stoorvogel, W. (Willem), Stott, S.L. (Shannon L), Strasser, E.F. (Erwin F), Swift, S. (Simon), Tahara, H. (Hidetoshi), Tewari, M. (Muneesh), Timms, K. (Kate), Tiwari, S. (Swasti), Tixeira, R. (Rochelle), Tkach, M. (Mercedes), Toh, W.S. (Wei Seong), Tomasini, R. (Richard), Torrecilhas, A.C. (Ana Claudia), Tosar, J.P. (Juan Pablo), Toxavidis, V. (Vasilis), Urbanelli, L. (Lorena), Vader, P. (Pieter), Balkom, B.W.M. (Bas) van, van der Grein, S.G. (Susanne G), Van Deun, J. (Jan), van Herwijnen, M.J.C. (Martijn JC), Van Keuren-Jensen, K. (Kendall), van Niel, G. (Guillaume), Royen, M.E. (Martin), van Wijnen, A.J. (Andre J), Vasconcelos, M.H. (M Helena), Vechetti, I.J. (Ivan J), Veit, T.D. (Tiago D), Vella, L.J. (Laura J.), Velot, É. (Émilie), Verweij, F.J. (Frederik J), Vestad, B. (Beate), Viñas, J.L. (Jose L), Visnovitz, T. (Tamás), Vukman, K.V. (Krisztina V), Wahlgren, J. (Jessica), Watson, D.C. (Dionysios C), Wauben, M.H.M. (Marca), Weaver, A. (Alissa), Webber, J.P. (Jason P), Weber, V. (Viktoria), Wehman, A.M. (Ann M), Weiss, D.J. (Daniel J), Welsh, J.A. (Joshua A), Wendt, S. (Sebastian), Wheelock, A.M. (Asa M), Wiener, Z. (Zoltán), Witte, L. (Leonie), Wolfram, J. (Joy), Xagorari, A. (Angeliki), Xander, P. (Patricia), Xu, J. (Jing), Yan, X. (Xiaomei), Yáñez-Mó, M. (María), Yin, H. (Hang), Yuana, Y., Zappulli, V. (Valentina), Zarubova, J. (Jana), Žėkas, V. (Vytautas), Zhang, J.-Y. (Jian-ye), Zhao, Z. (Zezhou), Zheng, L. (Lei), Zheutlin, A.R. (Alexander R), Zickler, A.M. (Antje M), Zimmermann, P. (Pascale), Zivkovic, A.M. (Angela M), Zocco, D. (Davide), Zuba-Surma, E.K. (Ewa K), Thery, C., Witwer, K. (Kenneth), Aikawa, E. (Elena), Alcaraz, M.J. (Maria Jose), Anderson, J.D. (Johnathon D), Andriantsitohaina, R. (Ramaroson), Antoniou, A. (Anna), Arab, T. (Tanina), Archer, F. (Fabienne), Atkin-Smith, G.K. (Georgia K), Ayre, D.C. (D Craig), Bach, J.-M. (Jean-Marie), Bachurski, D. (Daniel), Baharvand, H. (Hossein), Balaj, L. (Leonora), Baldacchino, S. (Shawn), Bauer, N.N. (Natalie N), Baxter, A.A. (Amy A), Bebawy, M. (Mary), Beckham, C. (Carla), Bedina Zavec, A. (Apolonija), Benmoussa, A. (Abderrahim), Berardi, A.C. (Anna C), Bergese, P. (Paolo), Bielska, E. (Ewa), Blenkiron, C. (Cherie), Bobis-Wozowicz, S. (Sylwia), Boilard, E. (Eric), Boireau, W. (Wilfrid), Bongiovanni, A. (Antonella), Borràs, F.E. (Francesc), Bosch, S. (Steffi), Boulanger, C.M. (Chantal), Breakefield, X. (Xandra), Breglio, A.M. (Andrew M), Brennan, M.Á. (Meadhbh Á), Brigstock, D.R. (David R), Brisson, A. (Alain), Broekman, M.L.D. (Marike), Bromberg, J.F. (Jacqueline F), Bryl-Górecka, P. (Paulina), Buch, S. (Shilpa), Buck, A.H. (Amy H), Burger, D. (Dylan), Busatto, S. (Sara), Buschmann, D. (Dominik), Bussolati, B. (Benedetta), Buzas, E. (Edit), Byrd, J.B. (James Bryan), Camussi, G. (Giovanni), Carter, D.R.F. (David RF), Caruso, S. (Sarah), Chamley, L.W. (Lawrence W), Chang, Y.-T. (Yu-Ting), Chaudhuri, A.D. (Amrita Datta), Chen, C. (Chihchen), Chen, S. (Shuai), Cheng, L. (Lesley), Chin, A.R. (Andrew R), Clayton, A. (Aled), Clerici, S.P. (Stefano P), Cocks, A. (Alex), Cocucci, E. (Emanuele), Coffey, R.J. (Robert J), Cordeiro-da-Silva, A. (Anabela), Couch, Y. (Yvonne), Coumans, F.A.W. (Frank AW), Coyle, B. (Beth), Crescitelli, R. (Rossella), Criado, M.F. (Miria Ferreira), D’Souza-Schorey, C. (Crislyn), Das, S. (Saumya), de Candia, P. (Paola), De Santana, E.F. (Eliezer F), De Wever, O. (Olivier), Del Portillo, H. (Hernando), Demaret, T. (Tanguy), Deville, S. (Sarah), Devitt, A. (Andrew), Dhondt, B. (Bert), Di Vizio, D. (Dolores), Dieterich, L.C. (Lothar C), Dolo, V. (Vincenza), Dominguez Rubio, A.P. (Ana Paula), Dominici, M. (Massimo), Dourado, M.R. (Mauricio R), Driedonks, T.A.P. (Tom AP), Duarte, F.V. (Filipe V), Duncan, H.M. (Heather M), Eichenberger, R.M. (Ramon M), Ekström, K. (Karin), EL Andaloussi, S. (Samir), Elie-Caille, C. (Celine), Erdbrügger, U. (Uta), Falcon-Perez, J.M. (Juan), Fatima, F. (Farah), Fish, J.E. (Jason E), Flores-Bellver, M. (Miguel), Försönits, A. (András), Frelet-Barrand, A. (Annie), Fricke, F. (Fabia), Fuhrmann, G. (Gregor), Gabrielsson, S. (Susanne), Gámez-Valero, A. (Ana), Gardiner, C. (Chris), Gärtner, K. (Kathrin), Gaudin, R. (Raphael), Gho, Y.S. (Yong Song), Giebel, B. (B.), Gilbert, C. (Caroline), Gimona, M. (Mario), Giusti, I. (Ilaria), Goberdhan, D.C.I. (Deborah CI), Görgens, A. (André), Gorski, S.M. (Sharon M), Greening, D.W. (David W.), Gross, J.C. (Julia Christina), Gualerzi, A. (Alice), Gupta, G.N. (Gopal N), Gustafson, D. (Dakota), Handberg, A. (Aase), Haraszti, R.A. (Reka A), Harrison, P. (Paul), Hegyesi, H. (Hargita), Hendrix, A. (An), Hill, A.F. (Andrew F), Hochberg, F.H. (Fred H), Hoffmann, K.F. (Karl F), Holder, B. (Beth), Holthofer, H. (Harry), Hosseinkhani, B. (Baharak), Hu, G. (Guoku), Huang, Y. (Yiyao), Huber, V. (Veronica), Hunt, S. (Stuart), Ibrahim, A.G.-E. (Ahmed Gamal-Eldin), Ikezu, T. (Tsuneya), Inal, J.M. (Jameel), Isin, M. (Mustafa), Ivanova, A. (Alena), Jackson, H.K. (Hannah K), Jacobsen, S. (Soren), Jay, S.M. (Steven M), Jayachandran, M. (Muthuvel), Jenster, G.W. (Guido), Jiang, L. (Lanzhou), Johnson, S.M. (Suzanne M), Jones, J.C. (Jennifer C), Jong, A. (Ambrose), Jovanovic-Talisman, T. (Tijana), Jung, S. (Stephanie), Kalluri, R. (Raghu), Kano, S.-I. (Shin-ichi), Kaur, S. (Sukhbir), Kawamura, Y. (Yumi), Keller, E.T. (Evan T), Khamari, D. (Delaram), Khomyakova, E. (Elena), Khvorova, A. (Anastasia), Kierulf, P. (Peter), Kim, K.P. (Kwang Pyo), Kislinger, T. (Thomas), Klingeborn, M. (Mikael), Klinke, D.J. (David J), Kornek, M. (Miroslaw), Kosanović, M.M. (Maja M), Kovács, Á.F. (Árpád Ferenc), Krämer-Albers, E.-M. (Eva-Maria), Krasemann, S. (Susanne), Krause, M. (Mirja), Kurochkin, I.V. (Igor V), Kusuma, G.D. (Gina D), Kuypers, S. (Sören), Laitinen, S. (Saara), Langevin, S.M. (Scott M), Languino, L.R. (Lucia R), Lannigan, J. (Joanne), Lässer, C. (Cecilia), Laurent, L.C. (Louise C), Lavieu, G. (Gregory), Lázaro-Ibáñez, E. (Elisa), Le Lay, S. (Soazig), Lee, M.-S. (Myung-Shin), Lee, Y.X.F. (Yi Xin Fiona), Lemos, D.S. (Debora S), Lenassi, M. (Metka), Leszczynska, A. (Aleksandra), Li, I.T.S. (Isaac TS), Liao, K. (Ke), Libregts, S.F. (Sten), Ligeti, E. (Erzsebet), Lim, R. (Rebecca), Lim, S.K. (Sai Kiang), Linē, A. (Aija), Linnemannstöns, K. (Karen), Llorente, A. (Alicia), Lombard, C.A. (Catherine A), Lorenowicz, M.J. (Magdalena J), Lörincz, Á.M. (Ákos M), Lötvall, J. (Jan), Lovett, J. (Jason), Lowry, M.C. (Michelle C), Loyer, X. (Xavier), Lu, Q. (Quan), Lukomska, B. (Barbara), Lunavat, T.R. (Taral R), Maas, S.L.N. (Sybren), Malhi, H. (Harmeet), Marcilla, A. (Antonio), Mariani, J. (Jacopo), Mariscal, J. (Javier), Martens-Uzunova, E.S. (Elena), Martin-Jaular, L. (Lorena), Martinez, M.C. (M Carmen), Martins, V.R. (Vilma Regina), Mathieu, M. (Mathilde), Mathivanan, S. (Suresh), Maugeri, M. (Marco), McGinnis, L.K. (Lynda K), McVey, M.J. (Mark J), Meckes, D.G. (David G), Meehan, K.L. (Katie L), Mertens, I. (Inge), Minciacchi, V.R. (Valentina R), Möller, A. (Andreas), Møller Jørgensen, M. (Malene), Morales-Kastresana, A. (Aizea), Morhayim, J. (Jess), Mullier, F. (Francois), Muraca, M. (Maurizio), Musante, L. (Luca), Mussack, V. (Veronika), Muth, D.C. (Dillon C), Myburgh, K.H. (Kathryn H), Najrana, T. (Tanbir), Nawaz, M. (Muhammad), Nazarenko, I. (Irina), Nejsum, P. (Peter), Neri, C. (Christian), Neri, T. (Tommaso), Nieuwland, C.C.M. (Carolien) van, Nimrichter, L. (Leonardo), Nolan, J.P. (John P), Nolte-’t Hoen, E.N.M. (Esther NM), Hooten, N.N. (Nicole Noren), O’Driscoll, L. (Lorraine), O’Grady, T. (Tina), O’Loghlen, A. (Ana), Ochiya, T. (Takahiro), Olivier, M. (Martin), Ortiz, A. (Alberto), Ortiz, L.A. (Luis A), Osteikoetxea, X. (Xabier), Ostegaard, O. (Ole), Ostrowski, M. (Matias), Park, J. (Jaesung), Pegtel, D.M. (D. Michiel), Peinado, H. (Hector), Perut, F. (Francesca), Pfaffl, M.W. (Michael W), Phinney, D.G. (Donald G), Pieters, B.C.H. (Bartijn CH), Pink, R.C. (Ryan C), Pisetsky, D.S. (David S), Pogge von Strandmann, E. (Elke), Polakovicova, I. (Iva), Poon, I.K.H. (Ivan KH), Powell, B.H. (Bonita H), Prada, I. (Ilaria), Pulliam, L. (Lynn), Quesenberry, P. (Peter), Radeghieri, A. (Annalisa), Raffai, R.L. (Robert L), Raimondo, S. (Stefania), Rak, J. (Janusz), Ramirez, M.I. (Marcel I.), Raposo, L. (Luís), Rayyan, M.S. (Morsi S), Regev-Rudzki, N. (Neta), Ricklefs, F.L. (Franz L), Robbins, P.D. (Paul D), Roberts, D.D. (David D), Rodrigues, S.C. (Silvia C), Rohde, E. (Eva), Rome, S. (Sophie), Rouschop, K.M.A. (Kasper MA), Rughetti, A. (Aurelia), Russell, A.E. (Ashley E), Saá, P. (Paula), Sahoo, S. (Susmita), Salas-Huenuleo, E. (Edison), Sánchez, C. (Catherine), Saugstad, J.A. (Julie A), Saul, M.J. (Meike J), Schiffelers, R.M. (Raymond), Schneider, R. (Raphael), Schøyen, T.H. (Tine Hiorth), Scott, A. (Aaron), Shahaj, E. (Eriomina), Sharma, S. (Shivani), Shatnyeva, O. (Olga), Shekari, F. (Faezeh), Shelke, G.V. (Ganesh Vilas), Shetty, A.K. (Ashok K), Shiba, K. (Kiyotaka), Siljander, P. (Pia), Silva, A.M. (Andreia M), Skowronek, A. (Agata), Snyder, O.L. (Orman L), Soares, R.P. (Rodrigo Pedro), Sódar, B.W. (Barbara W), Soekmadji, C. (Carolina), Sotillo, J. (Javier), Stahl, P.D. (Philip D), Stoorvogel, W. (Willem), Stott, S.L. (Shannon L), Strasser, E.F. (Erwin F), Swift, S. (Simon), Tahara, H. (Hidetoshi), Tewari, M. (Muneesh), Timms, K. (Kate), Tiwari, S. (Swasti), Tixeira, R. (Rochelle), Tkach, M. (Mercedes), Toh, W.S. (Wei Seong), Tomasini, R. (Richard), Torrecilhas, A.C. (Ana Claudia), Tosar, J.P. (Juan Pablo), Toxavidis, V. (Vasilis), Urbanelli, L. (Lorena), Vader, P. (Pieter), Balkom, B.W.M. (Bas) van, van der Grein, S.G. (Susanne G), Van Deun, J. (Jan), van Herwijnen, M.J.C. (Martijn JC), Van Keuren-Jensen, K. (Kendall), van Niel, G. (Guillaume), Royen, M.E. (Martin), van Wijnen, A.J. (Andre J), Vasconcelos, M.H. (M Helena), Vechetti, I.J. (Ivan J), Veit, T.D. (Tiago D), Vella, L.J. (Laura J.), Velot, É. (Émilie), Verweij, F.J. (Frederik J), Vestad, B. (Beate), Viñas, J.L. (Jose L), Visnovitz, T. (Tamás), Vukman, K.V. (Krisztina V), Wahlgren, J. (Jessica), Watson, D.C. (Dionysios C), Wauben, M.H.M. (Marca), Weaver, A. (Alissa), Webber, J.P. (Jason P), Weber, V. (Viktoria), Wehman, A.M. (Ann M), Weiss, D.J. (Daniel J), Welsh, J.A. (Joshua A), Wendt, S. (Sebastian), Wheelock, A.M. (Asa M), Wiener, Z. (Zoltán), Witte, L. (Leonie), Wolfram, J. (Joy), Xagorari, A. (Angeliki), Xander, P. (Patricia), Xu, J. (Jing), Yan, X. (Xiaomei), Yáñez-Mó, M. (María), Yin, H. (Hang), Yuana, Y., Zappulli, V. (Valentina), Zarubova, J. (Jana), Žėkas, V. (Vytautas), Zhang, J.-Y. (Jian-ye), Zhao, Z. (Zezhou), Zheng, L. (Lei), Zheutlin, A.R. (Alexander R), Zickler, A.M. (Antje M), Zimmermann, P. (Pascale), Zivkovic, A.M. (Angela M), Zocco, D. (Davide), and Zuba-Surma, E.K. (Ewa K)
Abstract: The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make the
Published: 2019
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8. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome

Author: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service d'ophtalmologie, ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service d'ophtalmologie, ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, and Sokal, Etienne
Abstract: Objectives and Study: Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille syndrome (AS), of which embryotoxon, pseudo-papilledema (PPO), and pigmentary retinopathy are the most common. Papilledema (PO), with or without intracranial hypertension (ICHT)/pseudotumor cerebri syndrome (PTCS), are rarely described. We here report 9 cases of bilateral PO in an AS cohort, 5 of whom were diagnosed with PTCS that occurred after liver transplantation. Methods: We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n = 48) and/or genetically (n = 37) proven AS, who were followed in 2 referral hospitals (UCL St Luc Brussels, n = 75; HUG Geneva, n = 10). Patients who received liver transplantation (LT) (n = 40) were compared with pediatric patients (n = 40) with LT for indications other than AS. Results: Sixty-nine patients fulfilled the inclusion criteria; the PO incidence in this cohort was 13% (9/69, 13%). Forty of these patients (40/69, 58%) underwent LT, of whom 2 developed true PO before LT and 6 developed PO after LT (6/40, 15%). One non-LT child (1/28, 3%) had PO, but had a normal neurological examination and rapid resolution. PO resolved spontaneously or remained stable without complications in 4 patients (2 with pre-transplant onset) (4/69, 6%). The remaining 5 patients had a normal neurological examination and cerebral magnetic resonance imaging findings (5/69, 7%). Probable PTCS was diagnosed in 1 patient and definite PCTS was diagnosed in 4 patients. PTCS was treated with steroids alone in 1 patient, and in combination with acetazolamide in 2 patients. In 2 of these 3 patients, ventriculo-peritoneal derivation was ultimately required for severe progressive visual loss. PPO was present in 10 other (10/69, 10%). One patient in the non-AS cohort had PO, yielding an incidence of 2.5% (1/40). Conclusions: True PTCS may be underdiagnosed in AS, but should be considered as a feature of this sy
Published: 2019

9. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Author: Thery, C, Witwer, KW, Aikawa, E, Jose Alcaraz, M, Anderson, JD, Andriantsitohaina, R, Antoniou, A, Arab, T, Archer, F, Atkin-Smith, GK, Ayre, DC, Bach, J-M, Bachurski, D, Baharvand, H, Balaj, L, Baldacchino, S, Bauer, NN, Baxter, AA, Bebawy, M, Beckham, C, Zavec, AB, Benmoussa, A, Berardi, AC, Bergese, P, Bielska, E, Blenkiron, C, Bobis-Wozowicz, S, Boilard, E, Boireau, W, Bongiovanni, A, Borras, FE, Bosch, S, Boulanger, CM, Breakefield, X, Breglio, AM, Brennan, MA, Brigstock, DR, Brisson, A, Broekman, MLD, Bromberg, JF, Bryl-Gorecka, P, Buch, S, Buck, AH, Burger, D, Busatto, S, Buschmann, D, Bussolati, B, Buzas, E, Byrd, JB, Camussi, G, Carter, DRF, Caruso, S, Chamley, LW, Chang, Y-T, Chen, C, Chen, S, Cheng, L, Chin, AR, Clayton, A, Clerici, SP, Cocks, A, Cocucci, E, Coffey, RJ, Cordeiro-da-Silva, A, Couch, Y, Coumans, FAW, Coyle, B, Crescitelli, R, Criado, MF, D'Souza-Schorey, C, Das, S, Chaudhuri, AD, de Candia, P, De Santana Junior, EF, De Wever, O, del Portillo, HA, Demaret, T, Deville, S, Devitt, A, Dhondt, B, Di Vizio, D, Dieterich, LC, Dolo, V, Dominguez Rubio, AP, Dominici, M, Dourado, MR, Driedonks, TAP, Duarte, F, Duncan, HM, Eichenberger, RM, Ekstrom, K, Andaloussi, SEL, Elie-Caille, C, Erdbrugger, U, Falcon-Perez, JM, Fatima, F, Fish, JE, Flores-Bellver, M, Forsonits, A, Frelet-Barrand, A, Fricke, F, Fuhrmann, G, Gabrielsson, S, Gamez-Valero, A, Gardiner, C, Gaertner, K, Gaudin, R, Gho, YS, Giebel, B, Gilbert, C, Gimona, M, Giusti, I, Goberdhan, DC, Goergens, A, Gorski, SM, Greening, DW, Gross, JC, Gualerzi, A, Gupta, GN, Gustafson, D, Handberg, A, Haraszti, RA, Harrison, P, Hegyesi, H, Hendrix, A, Hill, AF, Hochberg, FH, Hoffmann, KF, Holder, B, Holthofer, H, Hosseinkhani, B, Hu, G, Huang, Y, Huber, V, Hunt, S, Ibrahim, AG-E, Ikezu, T, Inal, JM, Isin, M, Ivanova, A, Jackson, HK, Jacobsen, S, Jay, SM, Jayachandran, M, Jenster, G, Jiang, L, Johnson, SM, Jones, JC, Jong, A, Jovanovic-Talisman, T, Jung, S, Kalluri, R, Kano, S-I, Kaur, S, Kawamura, Y, Keller, ET, Khamari, D, Khomyakova, E, Khvorova, A, Kierulf, P, Kim, KP, Kislinger, T, Klingeborn, M, Klinke, DJ, Kornek, M, Kosanovic, MM, Kovacs, AF, Kraemer-Albers, E-M, Krasemann, S, Krause, M, Kurochkin, I, Kusuma, GD, Kuypers, S, Laitinen, S, Langevin, SM, Languino, LR, Lannigan, J, Lasser, C, Laurent, LC, Lavieu, G, Lazaro-Ibanez, E, Le Lay, S, Lee, M-S, Lee, YXF, Lemos, DS, Lenassi, M, Leszczynska, A, Li, ITS, Liao, K, Libregts, SF, Ligeti, E, Lim, R, Lim, SK, Line, A, Linnemannstoens, K, Llorente, A, Lombard, CA, Lorenowicz, MJ, Lorincz, AM, Lotvall, J, Lovett, J, Lowry, MC, Loyer, X, Lu, Q, Lukomska, B, Lunavat, TR, Maas, SLN, Malhi, H, Marcilla, A, Mariani, J, Mariscal, J, Martens-Uzunova, ES, Martin-Jaular, L, Martinez, MC, Martins, VR, Mathieu, M, Mathivanan, S, Maugeri, M, McGinnis, LK, McVey, MJ, Meckes, DG, Meehan, KL, Mertens, I, Minciacchi, VR, Moller, A, Jorgensen, MM, Morales-Kastresana, A, Morhayim, J, Mullier, F, Muraca, M, Musante, L, Mussack, V, Muth, DC, Myburgh, KH, Najrana, T, Nawaz, M, Nazarenko, I, Nejsum, P, Neri, C, Neri, T, Nieuwland, R, Nimrichter, L, Nolan, JP, Nolte-'t Hoen, ENM, Noren Hooten, N, O'Driscoll, L, O'Grady, T, O'Loghlen, A, Ochiya, T, Olivier, M, Ortiz, A, Ortiz, LA, Osteikoetxea, X, Ostegaard, O, Ostrowski, M, Park, J, Pegtel, DM, Peinado, H, Perut, F, Pfaffl, MW, Phinney, DG, Pieters, BCH, Pink, RC, Pisetsky, DS, von Strandmann, EP, Polakovicova, I, Poon, IKH, Powell, BH, Prada, I, Pulliam, L, Quesenberry, P, Radeghieri, A, Raffai, RL, Raimondo, S, Rak, J, Ramirez, M, Raposo, G, Rayyan, MS, Regev-Rudzki, N, Ricklefs, FL, Robbins, PD, Roberts, DD, Rodrigues, SC, Rohde, E, Rome, S, Rouschop, KMA, Rughetti, A, Russell, AE, Saa, P, Sahoo, S, Salas-Huenuleo, E, Sanchez, C, Saugstad, JA, Saul, MJ, Schiffelers, RM, Schneider, R, Schoyen, TH, Scott, A, Shahaj, E, Sharma, S, Shatnyeva, O, Shekari, F, Shelke, GV, Shetty, AK, Shiba, K, Siljander, PR-M, Silva, AM, Skowronek, A, Snyder, OL, Soares, RP, Sodar, BW, Soekmadji, C, Sotillo, J, Stahl, PD, Stoorvogel, W, Stott, SL, Strasser, EF, Swift, S, Tahara, H, Tewari, M, Timms, K, Tiwari, S, Tixeira, R, Tkach, M, Toh, WS, Tomasini, R, Torrecilhas, AC, Pablo Tosar, J, Toxavidis, V, Urbanelli, L, Vader, P, van Balkom, BWM, van der Grein, SG, Van Deun, J, van Herwijnen, MJC, Van Keuren-Jensen, K, van Niel, G, van Royen, ME, van Wijnen, AJ, Helena Vasconcelos, M, Vechetti, IJ, Veit, TD, Vella, LJ, Velot, E, Verweij, FJ, Vestad, B, Vinas, JL, Visnovitz, T, Vukman, KV, Wahlgren, J, Watson, DC, Wauben, MHM, Weaver, A, Webber, JP, Weber, V, Wehman, AM, Weiss, DJ, Welsh, JA, Wendt, S, Wheelock, AM, Wiener, Z, Witte, L, Wolfram, J, Xagorari, A, Xander, P, Xu, J, Yan, X, Yanez-Mo, M, Yin, H, Yuana, Y, Zappulli, V, Zarubova, J, Zekas, V, Zhang, J-Y, Zhao, Z, Zheng, L, Zheutlin, AR, Zickler, AM, Zimmermann, P, Zivkovic, AM, Zocco, D, Zuba-Surma, EK, Thery, C, Witwer, KW, Aikawa, E, Jose Alcaraz, M, Anderson, JD, Andriantsitohaina, R, Antoniou, A, Arab, T, Archer, F, Atkin-Smith, GK, Ayre, DC, Bach, J-M, Bachurski, D, Baharvand, H, Balaj, L, Baldacchino, S, Bauer, NN, Baxter, AA, Bebawy, M, Beckham, C, Zavec, AB, Benmoussa, A, Berardi, AC, Bergese, P, Bielska, E, Blenkiron, C, Bobis-Wozowicz, S, Boilard, E, Boireau, W, Bongiovanni, A, Borras, FE, Bosch, S, Boulanger, CM, Breakefield, X, Breglio, AM, Brennan, MA, Brigstock, DR, Brisson, A, Broekman, MLD, Bromberg, JF, Bryl-Gorecka, P, Buch, S, Buck, AH, Burger, D, Busatto, S, Buschmann, D, Bussolati, B, Buzas, E, Byrd, JB, Camussi, G, Carter, DRF, Caruso, S, Chamley, LW, Chang, Y-T, Chen, C, Chen, S, Cheng, L, Chin, AR, Clayton, A, Clerici, SP, Cocks, A, Cocucci, E, Coffey, RJ, Cordeiro-da-Silva, A, Couch, Y, Coumans, FAW, Coyle, B, Crescitelli, R, Criado, MF, D'Souza-Schorey, C, Das, S, Chaudhuri, AD, de Candia, P, De Santana Junior, EF, De Wever, O, del Portillo, HA, Demaret, T, Deville, S, Devitt, A, Dhondt, B, Di Vizio, D, Dieterich, LC, Dolo, V, Dominguez Rubio, AP, Dominici, M, Dourado, MR, Driedonks, TAP, Duarte, F, Duncan, HM, Eichenberger, RM, Ekstrom, K, Andaloussi, SEL, Elie-Caille, C, Erdbrugger, U, Falcon-Perez, JM, Fatima, F, Fish, JE, Flores-Bellver, M, Forsonits, A, Frelet-Barrand, A, Fricke, F, Fuhrmann, G, Gabrielsson, S, Gamez-Valero, A, Gardiner, C, Gaertner, K, Gaudin, R, Gho, YS, Giebel, B, Gilbert, C, Gimona, M, Giusti, I, Goberdhan, DC, Goergens, A, Gorski, SM, Greening, DW, Gross, JC, Gualerzi, A, Gupta, GN, Gustafson, D, Handberg, A, Haraszti, RA, Harrison, P, Hegyesi, H, Hendrix, A, Hill, AF, Hochberg, FH, Hoffmann, KF, Holder, B, Holthofer, H, Hosseinkhani, B, Hu, G, Huang, Y, Huber, V, Hunt, S, Ibrahim, AG-E, Ikezu, T, Inal, JM, Isin, M, Ivanova, A, Jackson, HK, Jacobsen, S, Jay, SM, Jayachandran, M, Jenster, G, Jiang, L, Johnson, SM, Jones, JC, Jong, A, Jovanovic-Talisman, T, Jung, S, Kalluri, R, Kano, S-I, Kaur, S, Kawamura, Y, Keller, ET, Khamari, D, Khomyakova, E, Khvorova, A, Kierulf, P, Kim, KP, Kislinger, T, Klingeborn, M, Klinke, DJ, Kornek, M, Kosanovic, MM, Kovacs, AF, Kraemer-Albers, E-M, Krasemann, S, Krause, M, Kurochkin, I, Kusuma, GD, Kuypers, S, Laitinen, S, Langevin, SM, Languino, LR, Lannigan, J, Lasser, C, Laurent, LC, Lavieu, G, Lazaro-Ibanez, E, Le Lay, S, Lee, M-S, Lee, YXF, Lemos, DS, Lenassi, M, Leszczynska, A, Li, ITS, Liao, K, Libregts, SF, Ligeti, E, Lim, R, Lim, SK, Line, A, Linnemannstoens, K, Llorente, A, Lombard, CA, Lorenowicz, MJ, Lorincz, AM, Lotvall, J, Lovett, J, Lowry, MC, Loyer, X, Lu, Q, Lukomska, B, Lunavat, TR, Maas, SLN, Malhi, H, Marcilla, A, Mariani, J, Mariscal, J, Martens-Uzunova, ES, Martin-Jaular, L, Martinez, MC, Martins, VR, Mathieu, M, Mathivanan, S, Maugeri, M, McGinnis, LK, McVey, MJ, Meckes, DG, Meehan, KL, Mertens, I, Minciacchi, VR, Moller, A, Jorgensen, MM, Morales-Kastresana, A, Morhayim, J, Mullier, F, Muraca, M, Musante, L, Mussack, V, Muth, DC, Myburgh, KH, Najrana, T, Nawaz, M, Nazarenko, I, Nejsum, P, Neri, C, Neri, T, Nieuwland, R, Nimrichter, L, Nolan, JP, Nolte-'t Hoen, ENM, Noren Hooten, N, O'Driscoll, L, O'Grady, T, O'Loghlen, A, Ochiya, T, Olivier, M, Ortiz, A, Ortiz, LA, Osteikoetxea, X, Ostegaard, O, Ostrowski, M, Park, J, Pegtel, DM, Peinado, H, Perut, F, Pfaffl, MW, Phinney, DG, Pieters, BCH, Pink, RC, Pisetsky, DS, von Strandmann, EP, Polakovicova, I, Poon, IKH, Powell, BH, Prada, I, Pulliam, L, Quesenberry, P, Radeghieri, A, Raffai, RL, Raimondo, S, Rak, J, Ramirez, M, Raposo, G, Rayyan, MS, Regev-Rudzki, N, Ricklefs, FL, Robbins, PD, Roberts, DD, Rodrigues, SC, Rohde, E, Rome, S, Rouschop, KMA, Rughetti, A, Russell, AE, Saa, P, Sahoo, S, Salas-Huenuleo, E, Sanchez, C, Saugstad, JA, Saul, MJ, Schiffelers, RM, Schneider, R, Schoyen, TH, Scott, A, Shahaj, E, Sharma, S, Shatnyeva, O, Shekari, F, Shelke, GV, Shetty, AK, Shiba, K, Siljander, PR-M, Silva, AM, Skowronek, A, Snyder, OL, Soares, RP, Sodar, BW, Soekmadji, C, Sotillo, J, Stahl, PD, Stoorvogel, W, Stott, SL, Strasser, EF, Swift, S, Tahara, H, Tewari, M, Timms, K, Tiwari, S, Tixeira, R, Tkach, M, Toh, WS, Tomasini, R, Torrecilhas, AC, Pablo Tosar, J, Toxavidis, V, Urbanelli, L, Vader, P, van Balkom, BWM, van der Grein, SG, Van Deun, J, van Herwijnen, MJC, Van Keuren-Jensen, K, van Niel, G, van Royen, ME, van Wijnen, AJ, Helena Vasconcelos, M, Vechetti, IJ, Veit, TD, Vella, LJ, Velot, E, Verweij, FJ, Vestad, B, Vinas, JL, Visnovitz, T, Vukman, KV, Wahlgren, J, Watson, DC, Wauben, MHM, Weaver, A, Webber, JP, Weber, V, Wehman, AM, Weiss, DJ, Welsh, JA, Wendt, S, Wheelock, AM, Wiener, Z, Witte, L, Wolfram, J, Xagorari, A, Xander, P, Xu, J, Yan, X, Yanez-Mo, M, Yin, H, Yuana, Y, Zappulli, V, Zarubova, J, Zekas, V, Zhang, J-Y, Zhao, Z, Zheng, L, Zheutlin, AR, Zickler, AM, Zimmermann, P, Zivkovic, AM, Zocco, D, and Zuba-Surma, EK
Abstract: The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles ("MISEV") guidelines for the field in 2014. We now update these "MISEV2014" guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
Published: 2018

10. Liver transplantation does not impact the renal function outcome in Alagille syndrome

Author: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Demaret , T, Varma, Sharat, Vainilovich, Yelena, Halac, Ugur, El Bizri, Diane, Ambroise, Jérôme, Scheers, Isabelle, Stéphenne, Xavier, Smets, Françoise, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Demaret , T, Varma, Sharat, Vainilovich, Yelena, Halac, Ugur, El Bizri, Diane, Ambroise, Jérôme, Scheers, Isabelle, Stéphenne, Xavier, Smets, Françoise, and Sokal, Etienne
Abstract: Background and Aims: Alagille syndrome (AS) is an autosomal dominant multi-systemic disorder caused by pathogenic variants in JAG1 and NOTCH2. Characteristic findings include hepatic involvement with bile duct paucity and 20-50% eventually need a liver transplantation. Post-LT Tacrolimus induced nephropathy is well recognised and 40% of AS patients have an underlying renal anomaly. In the current study we analysed the impact of LT and Tacrolimus on the evolution of renal function (RF) in children with AS. Methods: Retrospective study including 50 children that satisfied 3 of 5 major Alagille syndrome criteria and under regular follow-up at our centre between 1984 and 2016. Clinical, biochemical and radiological data were collected at similar time points of follow-up among the transplanted and non-transplanted children. The time points were at diagnosis or at LT and after 1-2 years, 2-3 years, 3-5 years, 5-7 years and 7-10 years of follow-up. The RF was estimated by glomerular filtration rate (eGFR) using the updated Schwartz formula. The RF outcomes of children with AS having undergone LT were compared with those without LT and also with children having undergone LT for non-AS related indication but without associated nephropathy. Results: 28 of 50 (56%) included AS children underwent LT and were compared with 77 children transplanted for non-AS indications. Mean eGFR post-LT in AS patients and non-AS patients were 93.8 mL/min and 143.2 mL/min, respectively (difference: 49.4 mL/min, p<0.0001). Among children with AS mean eGFR observed in those who did not receive LT was 87.9 mL/min, -5.9 mL/min compared to those who received LT though this was statistically insignificant (p=0.32). Presence of renal ultrasound abnormalities was correlated to RF impairment in AS patients, with or without LT: -14.6 mL/min (98.5 mL/min vs 83.9 mL/min, p=0.03) and -40.9 mL/min (97.8 mL/min vs 56.9 mL/min, p<0.0001), respectively. Conclusions: Post-LT renal function outcomes are significa
Published: 2017

11. Liver transplantation does not impact the renal function outcome in Alagille syndrome

Author: Demaret, T., primary, Varma, S., additional, Vainilovich, Y., additional, Halac, U., additional, El Bizri, D., additional, Ambroise, J., additional, Scheers, I., additional, Stephenne, X., additional, Smets, F., additional, and Sokal, E., additional
Published: 2017
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12. Comment faire de la fiche d’entreprise un outil de prévention primaire des risques psychosociaux ?

Author: Halter, E., primary, Cuveillier, G., additional, Demaret, T., additional, Garrabe, H., additional, Gautreau, C., additional, Grimaldi, B., additional, Moutet-Krebs, C., additional, Opatowski, S., additional, Paris, M., additional, Roussel, V., additional, Sandret, N., additional, and Vigneron, N., additional
Published: 2012
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13. Nutritional, digestive and liver evolution of patients with lysosomal acid lipase deficiency treated with Sebelipase alfa.

Author: Payen, E., Brassier, A., Arnoux, J.-B., Drabent, P., Duong, J.-P., Demaret, T., and Lacaille, F.
Published: 2022
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14. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Author: Shannon M, Vandriel, Li-Ting, Li, Huiyu, She, Jian-She, Wang, Melissa A, Gilbert, Irena, Jankowska, Piotr, Czubkowski, Dorota, Gliwicz-Miedzińska, Emmanuel M, Gonzales, Emmanuel, Jacquemin, Jérôme, Bouligand, Nancy B, Spinner, Kathleen M, Loomes, David A, Piccoli, Lorenzo, D'Antiga, Emanuele, Nicastro, Étienne, Sokal, Tanguy, Demaret, Noelle H, Ebel, Jeffrey A, Feinstein, Rima, Fawaz, Silvia, Nastasio, Florence, Lacaille, Dominique, Debray, Henrik, Arnell, Björn, Fischler, Susan, Siew, Michael, Stormon, Saul J, Karpen, Rene, Romero, Kyung Mo, Kim, Woo Yim, Baek, Winita, Hardikar, Sahana, Shankar, Amin J, Roberts, Helen M, Evans, M Kyle, Jensen, Marianne, Kavan, Shikha S, Sundaram, Alexander, Chaidez, Palaniswamy, Karthikeyan, Maria Camila, Sanchez, Maria Lorena, Cavalieri, Henkjan J, Verkade, Way Seah, Lee, James E, Squires, Christina, Hajinicolaou, Chatmanee, Lertudomphonwanit, Ryan T, Fischer, Catherine, Larson-Nath, Yael, Mozer-Glassberg, Cigdem, Arikan, Henry C, Lin, Jesus Quintero, Bernabeu, Seema, Alam, Deirdre A, Kelly, Elisa, Carvalho, Cristina Targa, Ferreira, Giuseppe, Indolfi, Ruben E, Quiros-Tejeira, Pinar, Bulut, Pier Luigi, Calvo, Zerrin, Önal, Pamela L, Valentino, Dev M, Desai, John, Eshun, Maria, Rogalidou, Antal, Dezsőfi, Sabina, Wiecek, Gabriella, Nebbia, Raquel Borges, Pinto, Victorien M, Wolters, María Legarda, Tamara, Andréanne N, Zizzo, Jennifer, Garcia, Kathleen, Schwarz, Marisa, Beretta, Thomas Damgaard, Sandahl, Carolina, Jimenez-Rivera, Nanda, Kerkar, Jernej, Brecelj, Quais, Mujawar, Nathalie, Rock, Cristina Molera, Busoms, Wikrom, Karnsakul, Eberhard, Lurz, Ermelinda, Santos-Silva, Niviann, Blondet, Luis, Bujanda, Uzma, Shah, Richard J, Thompson, Bettina E, Hansen, Binita M, Kamath, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Vandriel, S.M., Li, L.T., She, H., Wang, J.S., Gilbert, M.A., Jankowska, I., Czubkowski, P., Gliwicz-Miedzi?ska, D., Gonzales, E.M., Jacquemin, E., Bouligand, J., Spinner, N.B., Loomes, K.M., Piccoli, D.A., D'Antiga, L., Nicastro, E., Sokal, É., Demaret, T., Ebel, N.H., Feinstein, J.A., Fawaz, R., Nastasio, S., Lacaille, F., Debray, D., Arnell, H., Fischler, B., Siew, S., Stormon, M., Karpen, S.J., Romero, R., Kim, K.M., Baek, W.Y., Hardikar, W., Shankar, S., Roberts, A.J., Evans, H.M., Jensen, M.K., Kavan, M., Sundaram, S.S., Chaidez, A., Karthikeyan, P., Sanchez, M.C., Cavalieri, M.L., Verkade, H.J., Lee, W.S., Squires, J.E., Hajinicolaou, C., Lertudomphonwanit, C., Fischer, R.T., Larson-Nath, C., Mozer-Glassberg, Y., Lin, H.C., Quintero, Bernabeu J., Alam, S., Kelly, D., Carvalho, E., Ferreira, C.T., Indolfi, G., Quiros-Tejeira, R.E., Bulut, P., Calvo, P.L., Önal, Z., Valentino, P.L., Desai, D.M., Eshun, J., Rogalidou, M., Dezs?fi, A., Wiecek, S., Nebbia, G., Borges Pinto, R., Wolters, V.M., Tamara, M.L., Zizzo, A.N., Garcia, J., Schwarz, K., Beretta, M., Sandahl, T.D., Jimenez-Rivera, C., Kerkar, N., Brecelj, J., Mujawar, Q., Rock, N., Busoms, C.M., Karnsakul, W., Lurz, E., Santos-Silva, E., Blondet, N., Bujanda, L., Shah, U., Thompson, R.J., Hansen, B.E., Kamath, B.M., Global ALagille Alliance (GALA) Study Group, Koç University Hospital, School of Medicine, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
Subjects: Male, Cholestasis, Alagille syndrome, Bile duct atresia, Intrahepatic cholestasis, Hepatology, Hypertension, Portal/etiology, Gastroenterology and hepatology, Alagille Syndrome/epidemiology, Humans, Female, Child, Retrospective Studies
Abstract: Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. Approach and results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced >= 1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and = 5.0 and = 10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those 10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to = 5.0 mg/dl, with 79% reaching adulthood with native liver (p < 0.001). Conclusions: in this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB, This study received funding support from the following agencies: The Alagille Syndrome Alliance, Mirum Pharmaceuticals Inc. and Albireo Pharma, Inc. who provided unrestricted educational grants to the Hospital for Sick Children (SickKids Foundation). The study sponsors were not involved in the conduct of the research study or preparation of the manuscript.
Published: 2022

15. Minimal information for studies of extracellular vesicles 2018 (MISEV2018):a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Author: Théry, Clotilde, Witwer, Kenneth W, Aikawa, Elena, Alcaraz, Maria Jose, Anderson, Johnathon D, Andriantsitohaina, Ramaroson, Antoniou, Anna, Arab, Tanina, Archer, Fabienne, Atkin-Smith, Georgia K, Ayre, D Craig, Bach, Jean-Marie, Bachurski, Daniel, Baharvand, Hossein, Balaj, Leonora, Baldacchino, Shawn, Bauer, Natalie N, Baxter, Amy A, Bebawy, Mary, Beckham, Carla, Bedina Zavec, Apolonija, Benmoussa, Abderrahim, Berardi, Anna C, Bergese, Paolo, Bielska, Ewa, Blenkiron, Cherie, Bobis-Wozowicz, Sylwia, Boilard, Eric, Boireau, Wilfrid, Bongiovanni, Antonella, Borràs, Francesc E, Bosch, Steffi, Boulanger, Chantal M, Breakefield, Xandra, Breglio, Andrew M, Brennan, Meadhbh Á, Brigstock, David R, Brisson, Alain, Broekman, Marike Ld, Bromberg, Jacqueline F, Bryl-Górecka, Paulina, Buch, Shilpa, Buck, Amy H, Burger, Dylan, Busatto, Sara, Buschmann, Dominik, Bussolati, Benedetta, Buzás, Edit I, Byrd, James Bryan, Camussi, Giovanni, Carter, David Rf, Caruso, Sarah, Chamley, Lawrence W, Chang, Yu-Ting, Chen, Chihchen, Chen, Shuai, Cheng, Lesley, Chin, Andrew R, Clayton, Aled, Clerici, Stefano P, Cocks, Alex, Cocucci, Emanuele, Coffey, Robert J, Cordeiro-da-Silva, Anabela, Couch, Yvonne, Coumans, Frank Aw, Coyle, Beth, Crescitelli, Rossella, Criado, Miria Ferreira, D'Souza-Schorey, Crislyn, Das, Saumya, Datta Chaudhuri, Amrita, de Candia, Paola, De Santana, Eliezer F, De Wever, Olivier, Del Portillo, Hernando A, Demaret, Tanguy, Deville, Sarah, Devitt, Andrew, Dhondt, Bert, Di Vizio, Dolores, Dieterich, Lothar C, Dolo, Vincenza, Dominguez Rubio, Ana Paula, Dominici, Massimo, Dourado, Mauricio R, Driedonks, Tom Ap, Duarte, Filipe V, Duncan, Heather M, Eichenberger, Ramon M, Ekström, Karin, El Andaloussi, Samir, Elie-Caille, Celine, Erdbrügger, Uta, Falcón-Pérez, Juan M, Fatima, Farah, Fish, Jason E, Flores-Bellver, Miguel, Försönits, András, Frelet-Barrand, Annie, Fricke, Fabia, Fuhrmann, Gregor, Gabrielsson, Susanne, Gámez-Valero, Ana, Gardiner, Chris, Gärtner, Kathrin, Gaudin, Raphael, Gho, Yong Song, Giebel, Bernd, Gilbert, Caroline, Gimona, Mario, Giusti, Ilaria, Goberdhan, Deborah Ci, Görgens, André, Gorski, Sharon M, Greening, David W, Gross, Julia Christina, Gualerzi, Alice, Gupta, Gopal N, Gustafson, Dakota, Handberg, Aase, Haraszti, Reka A, Harrison, Paul, Hegyesi, Hargita, Hendrix, An, Hill, Andrew F, Hochberg, Fred H, Hoffmann, Karl F, Holder, Beth, Holthofer, Harry, Hosseinkhani, Baharak, Hu, Guoku, Huang, Yiyao, Huber, Veronica, Hunt, Stuart, Ibrahim, Ahmed Gamal-Eldin, Ikezu, Tsuneya, Inal, Jameel M, Isin, Mustafa, Ivanova, Alena, Jackson, Hannah K, Jacobsen, Soren, Jay, Steven M, Jayachandran, Muthuvel, Jenster, Guido, Jiang, Lanzhou, Johnson, Suzanne M, Jones, Jennifer C, Jong, Ambrose, Jovanovic-Talisman, Tijana, Jung, Stephanie, Kalluri, Raghu, Kano, Shin-Ichi, Kaur, Sukhbir, Kawamura, Yumi, Keller, Evan T, Khamari, Delaram, Khomyakova, Elena, Khvorova, Anastasia, Kierulf, Peter, Kim, Kwang Pyo, Kislinger, Thomas, Klingeborn, Mikael, Klinke, David J, Kornek, Miroslaw, Kosanović, Maja M, Kovács, Árpád Ferenc, Krämer-Albers, Eva-Maria, Krasemann, Susanne, Krause, Mirja, Kurochkin, Igor V, Kusuma, Gina D, Kuypers, Sören, Laitinen, Saara, Langevin, Scott M, Languino, Lucia R, Lannigan, Joanne, Lässer, Cecilia, Laurent, Louise C, Lavieu, Gregory, Lázaro-Ibáñez, Elisa, Le Lay, Soazig, Lee, Myung-Shin, Lee, Yi Xin Fiona, Lemos, Debora S, Lenassi, Metka, Leszczynska, Aleksandra, Li, Isaac Ts, Liao, Ke, Libregts, Sten F, Ligeti, Erzsebet, Lim, Rebecca, Lim, Sai Kiang, Linē, Aija, Linnemannstöns, Karen, Llorente, Alicia, Lombard, Catherine A, Lorenowicz, Magdalena J, Lörincz, Ákos M, Lötvall, Jan, Lovett, Jason, Lowry, Michelle C, Loyer, Xavier, Lu, Quan, Lukomska, Barbara, Lunavat, Taral R, Maas, Sybren Ln, Malhi, Harmeet, Marcilla, Antonio, Mariani, Jacopo, Mariscal, Javier, Martens-Uzunova, Elena S, Martin-Jaular, Lorena, Martinez, M Carmen, Martins, Vilma Regina, Mathieu, Mathilde, Mathivanan, Suresh, Maugeri, Marco, McGinnis, Lynda K, McVey, Mark J, Meckes, David G, Meehan, Katie L, Mertens, Inge, Minciacchi, Valentina R, Möller, Andreas, Møller Jørgensen, Malene, Morales-Kastresana, Aizea, Morhayim, Jess, Mullier, François, Muraca, Maurizio, Musante, Luca, Mussack, Veronika, Muth, Dillon C, Myburgh, Kathryn H, Najrana, Tanbir, Nawaz, Muhammad, Nazarenko, Irina, Nejsum, Peter, Neri, Christian, Neri, Tommaso, Nieuwland, Rienk, Nimrichter, Leonardo, Nolan, John P, Nolte-'t Hoen, Esther NM, Noren Hooten, Nicole, O'Driscoll, Lorraine, O'Grady, Tina, O'Loghlen, Ana, Ochiya, Takahiro, Olivier, Martin, Ortiz, Alberto, Ortiz, Luis A, Osteikoetxea, Xabier, Østergaard, Ole, Ostrowski, Matias, Park, Jaesung, Pegtel, D Michiel, Peinado, Hector, Perut, Francesca, Pfaffl, Michael W, Phinney, Donald G, Pieters, Bartijn Ch, Pink, Ryan C, Pisetsky, David S, Pogge von Strandmann, Elke, Polakovicova, Iva, Poon, Ivan Kh, Powell, Bonita H, Prada, Ilaria, Pulliam, Lynn, Quesenberry, Peter, Radeghieri, Annalisa, Raffai, Robert L, Raimondo, Stefania, Rak, Janusz, Ramirez, Marcel I, Raposo, Graça, Rayyan, Morsi S, Regev-Rudzki, Neta, Ricklefs, Franz L, Robbins, Paul D, Roberts, David D, Rodrigues, Silvia C, Rohde, Eva, Rome, Sophie, Rouschop, Kasper Ma, Rughetti, Aurelia, Russell, Ashley E, Saá, Paula, Sahoo, Susmita, Salas-Huenuleo, Edison, Sánchez, Catherine, Saugstad, Julie A, Saul, Meike J, Schiffelers, Raymond M, Schneider, Raphael, Schøyen, Tine Hiorth, Scott, Aaron, Shahaj, Eriomina, Sharma, Shivani, Shatnyeva, Olga, Shekari, Faezeh, Shelke, Ganesh Vilas, Shetty, Ashok K, Shiba, Kiyotaka, Siljander, Pia R-M, Silva, Andreia M, Skowronek, Agata, Snyder, Orman L, Soares, Rodrigo Pedro, Sódar, Barbara W, Soekmadji, Carolina, Sotillo, Javier, Stahl, Philip D, Stoorvogel, Willem, Stott, Shannon L, Strasser, Erwin F, Swift, Simon, Tahara, Hidetoshi, Tewari, Muneesh, Timms, Kate, Tiwari, Swasti, Tixeira, Rochelle, Tkach, Mercedes, Toh, Wei Seong, Tomasini, Richard, Torrecilhas, Ana Claudia, Tosar, Juan Pablo, Toxavidis, Vasilis, Urbanelli, Lorena, Vader, Pieter, van Balkom, Bas Wm, van der Grein, Susanne G, Van Deun, Jan, van Herwijnen, Martijn Jc, Van Keuren-Jensen, Kendall, van Niel, Guillaume, van Royen, Martin E, van Wijnen, Andre J, Vasconcelos, M Helena, Vechetti, Ivan J, Veit, Tiago D, Vella, Laura J, Velot, Émilie, Verweij, Frederik J, Vestad, Beate, Viñas, Jose L, Visnovitz, Tamás, Vukman, Krisztina V, Wahlgren, Jessica, Watson, Dionysios C, Wauben, Marca Hm, Weaver, Alissa, Webber, Jason P, Weber, Viktoria, Wehman, Ann M, Weiss, Daniel J, Welsh, Joshua A, Wendt, Sebastian, Wheelock, Asa M, Wiener, Zoltán, Witte, Leonie, Wolfram, Joy, Xagorari, Angeliki, Xander, Patricia, Xu, Jing, Yan, Xiaomei, Yáñez-Mó, María, Yin, Hang, Yuana, Yuana, Zappulli, Valentina, Zarubova, Jana, Žėkas, Vytautas, Zhang, Jian-Ye, Zhao, Zezhou, Zheng, Lei, Zheutlin, Alexander R, Zickler, Antje M, Zimmermann, Pascale, Zivkovic, Angela M, Zocco, Davide, Zuba-Surma, Ewa K, dB&C I&I, LS Celbiologie-Algemeen, Celbiologie, Afd Pharmaceutics, Sub General Pharmaceutics, Sub Biomol.Mass Spect. and Proteomics, Afd Pharmacology, Urology, Pathology, Medical Oncology, Immunité et cancer, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Johns Hopkins University School of Medicine [Baltimore], Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Immuno-Endocrinologie Cellulaire et Moléculaire [Nantes] (IECM), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Department for Molecular Biology and Nanobiotechnology, National Institute of chemitry, Slovenia, Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies (UMR 6174) (FEMTO-ST), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Imagerie Moléculaire et Nanobiotechnologies - Institut Européen de Chimie et Biologie (IECB), Université Sciences et Technologies - Bordeaux 1-Centre National de la Recherche Scientifique (CNRS), Molecular Biotechnology Center, Università degli studi di Torino = University of Turin (UNITO), Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, La Trobe University, Centre for Sustainable Tropical Fisheries and Aquaculture, James Cook University (JCU), Department of Oncology - Pathology, Cancer Center Karolinska [Karolinska Institutet] (CCK), Karolinska Institutet [Stockholm]-Karolinska Institutet [Stockholm], Departamento de Ciências Biológicas, Universidade do Porto = University of Porto, Laboratory of Experimental Cancer Research, Department of Radiation Oncology and Experimental Cancer Research, Cancer Research Institute Ghent (CRIG), Universiteit Gent = Ghent University [Belgium] (UGENT), Department of Medical and Surgical Sciences for Children and Adults [Modena, Italy] (Laboratory of Cellular Therapy), Università degli Studi di Modena e Reggio Emilia (UNIMORE), Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden, Karolinska Institutet [Stockholm]-Karolinska University Hospital [Stockholm], Center for Cooperative Research in Biosciences (CIC bioGUNE), Partner site Munich, German Centre for Infection Research (DZIF), Institute for Transfusion Medicine, University Hospital Essen, Universität Duisburg-Essen [Essen], Mécanismes Adaptatifs et Evolution (MECADEV), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), Psychiatry, Institute of Biological, Environmental and Rural Sciences (IBERS), Aberystwyth University, Department of Bacteriology and Immunology [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Rigshospitalet [Copenhagen], Copenhagen University Hospital, Dalhousie University [Halifax], Department of Biology, Molecular Cell Biology, University of Mainz, Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Glycobiologie et signalisation cellulaire, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Krefting Research Centre, Department of Internal Medicine and Clinical Nutrition, University of Gothenburg (GU), Universidad de Alicante, École supérieure du professorat et de l'éducation - Académie de Créteil (UPEC ESPE Créteil), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), University of Antwerp (UA), Université Catholique de Louvain = Catholic University of Louvain (UCL), Research Institute, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Department of Veterinary Disease Biology [Copenhagen], Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), Biologie et Pathologie du Neurone (Brain-C), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Mathematics and Statistics, American University, University of Pretoria [South Africa], Ecole des Ingénieurs de la Ville de Paris (EIVP), Universitat Pompeu Fabra [Barcelona] (UPF), Instituto de Investigaciones Biomedicas, Universidad Nacional Autónoma de México (UNAM), Istituto Ortopedico Rizzoli, Department of Molecular Therapeutics, The Scripps Research Institute, Laboratoire d'Informatique de Grenoble (LIG ), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Montreal Children's Hospital, McGill University Health Center [Montreal] (MUHC), Compartimentation et dynamique cellulaires (CDC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Centre National de la Recherche Scientifique (CNRS), National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cardiovascular Research Center, Massachusetts General Hospital [Boston], University Medical Center [Utrecht], University of Toronto, Fiocruz Minas - René Rachou Research Center / Instituto René Rachou [Belo Horizonte, Brésil], Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Federal University of Sao Paulo (Unifesp), Functional Genomics / Genómica Funcional [Montevideo], Institut Pasteur de Montevideo, Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Università degli Studi di Perugia (UNIPG), Hospital Santa Cristina Instituto de Investigación Sanitaria Princesa C, Unidad de Investigación, Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Department of Physiology, University of California [San Francisco] (UCSF), University of California-University of California, University of Vermont [Burlington], Peking University [Beijing], Shandong Agricultural University (SDAU), State Key Laboratory of Quality Research in Chinese Medicine Taipa, Macau SAR, (Institute of Chinese Medical Sciences), Human Genetics, Universität Ulm - Ulm University [Ulm, Allemagne], INSERM, Institut Curie, INCa [INCA-11548], French National Research Agency [ANR-10-IDEX-0001-02 PSL*, ANR-11-LABX-0043], SIDACTION [17-1-AAE-1138], Fondation ARC [PGA1 RF20180206962, PJA 20171206453], NIDA [DA040385, DA047807], Ministry of Education, NIA [AG057430], NIMH [MH118164], Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), Université Sciences et Technologies - Bordeaux 1 (UB)-Centre National de la Recherche Scientifique (CNRS), Universiteit Gent = Ghent University (UGENT), Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Biotechnology and Biological Sciences Research Council (BBSRC)-Aberystwyth University, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), The Scripps Research Institute [La Jolla, San Diego], Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Università degli Studi di Perugia = University of Perugia (UNIPG), Instituto de Investigacion Sanitaria del Hospital de la Princesa, Hospital Universitario de La Princesa, University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), ANR-17-CE09-0025,MADNESS,Une approche microfluidique générique pour la qualification des nanoparticules biologiques(2017), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Biomedical Engineering and Physics, ACS - Atherosclerosis & ischemic syndromes, ACS - Microcirculation, Laboratory Specialized Diagnostics & Research, Radiotherapie, RS: GROW - R2 - Basic and Translational Cancer Biology, Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Université Nice Sophia Antipolis (... - 2019) (UNS), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), Università degli studi di Torino (UNITO), Universidade do Porto, University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Johannes Gutenberg - Universität Mainz (JGU), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Université Pierre et Marie Curie - Paris 6 (UPMC), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université de Toronto [Canada], Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U1192 (PRISM), Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Université de Franche-Comté (UFC)-Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Technologie de Belfort-Montbeliard (UTBM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie de la Résorption Osseuse et Thérapie des Tumeurs Osseuses Primitives, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidade do Porto [Porto], Ghent University [Belgium] (UGENT), FEMTO-ST Institute, Université de Technologie de Belfort-Montbeliard (UTBM)-Université de Franche-Comté (UFC)-CNRS : UMR6174, Mécanismes adaptatifs : des organismes aux communautés (MECADEV), Centre National de la Recherche Scientifique (CNRS)-Muséum national d'Histoire naturelle (MNHN), Johannes Gutenberg - University of Mainz (JGU), Université Catholique de Louvain (UCL), Universitat Pompeu Fabra [Barcelona], Laboratoire d'Informatique de Grenoble (LIG), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre National de la Recherche Scientifique (CNRS)-Institut Curie-Université Pierre et Marie Curie - Paris 6 (UPMC), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Laboratoire Réactions et Génie des Procédés (LRGP), Fiocruz Minas - René Rachou Research Center / Instituto René Rachou, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Functional Genomics Unit, Institut Curie-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Vermont College of Medicine [Burlington, VT, USA], Extracellular Vesicles, Molecular and Integrative Biosciences Research Programme, Thery, C., Witwer, K. W., Aikawa, E., Alcaraz, M. J., Anderson, J. D., Andriantsitohaina, R., Antoniou, A., Arab, T., Archer, F., Atkin-Smith, G. K., Ayre, D. C., Bach, J. -M., Bachurski, D., Baharvand, H., Balaj, L., Baldacchino, S., Bauer, N. N., Baxter, A. A., Bebawy, M., Beckham, C., Bedina Zavec, A., Benmoussa, A., Berardi, A. C., Bergese, P., Bielska, E., Blenkiron, C., Bobis-Wozowicz, S., Boilard, E., Boireau, W., Bongiovanni, A., Borras, F. E., Bosch, S., Boulanger, C. M., Breakefield, X., Breglio, A. M., Brennan, M. A., Brigstock, D. R., Brisson, A., Broekman, M. L. D., Bromberg, J. F., Bryl-Gorecka, P., Buch, S., Buck, A. H., Burger, D., Busatto, S., Buschmann, D., Bussolati, B., Buzas, E. I., Byrd, J. B., Camussi, G., Carter, D. R. F., Caruso, S., Chamley, L. W., Chang, Y. -T., Chaudhuri, A. D., Chen, C., Chen, S., Cheng, L., Chin, A. R., Clayton, A., Clerici, S. P., Cocks, A., Cocucci, E., Coffey, R. J., Cordeiro-da-Silva, A., Couch, Y., Coumans, F. A. W., Coyle, B., Crescitelli, R., Criado, M. F., D'Souza-Schorey, C., Das, S., de Candia, P., De Santana, E. F., De Wever, O., del Portillo, H. A., Demaret, T., Deville, S., Devitt, A., Dhondt, B., Di Vizio, D., Dieterich, L. C., Dolo, V., Dominguez Rubio, A. P., Dominici, M., Dourado, M. R., Driedonks, T. A. P., Duarte, F. V., Duncan, H. M., Eichenberger, R. M., Ekstrom, K., EL Andaloussi, S., Elie-Caille, C., Erdbrugger, U., Falcon-Perez, J. M., Fatima, F., Fish, J. E., Flores-Bellver, M., Forsonits, A., Frelet-Barrand, A., Fricke, F., Fuhrmann, G., Gabrielsson, S., Gamez-Valero, A., Gardiner, C., Gartner, K., Gaudin, R., Gho, Y. S., Giebel, B., Gilbert, C., Gimona, M., Giusti, I., Goberdhan, D. C. I., Gorgens, A., Gorski, S. M., Greening, D. W., Gross, J. C., Gualerzi, A., Gupta, G. N., Gustafson, D., Handberg, A., Haraszti, R. A., Harrison, P., Hegyesi, H., Hendrix, A., Hill, A. F., Hochberg, F. H., Hoffmann, K. F., Holder, B., Holthofer, H., Hosseinkhani, B., Hu, G., Huang, Y., Huber, V., Hunt, S., Ibrahim, A. G. -E., Ikezu, T., Inal, J. M., Isin, M., Ivanova, A., Jackson, H. K., Jacobsen, S., Jay, S. M., Jayachandran, M., Jenster, G., Jiang, L., Johnson, S. M., Jones, J. C., Jong, A., Jovanovic-Talisman, T., Jung, S., Kalluri, R., Kano, S. -I., Kaur, S., Kawamura, Y., Keller, E. T., Khamari, D., Khomyakova, E., Khvorova, A., Kierulf, P., Kim, K. P., Kislinger, T., Klingeborn, M., Klinke, D. J., Kornek, M., Kosanovic, M. M., Kovacs, A. F., Kramer-Albers, E. -M., Krasemann, S., Krause, M., Kurochkin, I. V., Kusuma, G. D., Kuypers, S., Laitinen, S., Langevin, S. M., Languino, L. R., Lannigan, J., Lasser, C., Laurent, L. C., Lavieu, G., Lazaro-Ibanez, E., Le Lay, S., Lee, M. -S., Lee, Y. X. F., Lemos, D. S., Lenassi, M., Leszczynska, A., Li, I. T. S., Liao, K., Libregts, S. F., Ligeti, E., Lim, R., Lim, S. K., Line, A., Linnemannstons, K., Llorente, A., Lombard, C. A., Lorenowicz, M. J., Lorincz, A. M., Lotvall, J., Lovett, J., Lowry, M. C., Loyer, X., Lu, Q., Lukomska, B., Lunavat, T. R., Maas, S. L. N., Malhi, H., Marcilla, A., Mariani, J., Mariscal, J., Martens-Uzunova, E. S., Martin-Jaular, L., Martinez, M. C., Martins, V. R., Mathieu, M., Mathivanan, S., Maugeri, M., Mcginnis, L. K., Mcvey, M. J., Meckes, D. G., Meehan, K. L., Mertens, I., Minciacchi, V. R., Moller, A., Moller Jorgensen, M., Morales-Kastresana, A., Morhayim, J., Mullier, F., Muraca, M., Musante, L., Mussack, V., Muth, D. C., Myburgh, K. H., Najrana, T., Nawaz, M., Nazarenko, I., Nejsum, P., Neri, C., Neri, T., Nieuwland, R., Nimrichter, L., Nolan, J. P., Nolte-'t Hoen, E. N. M., Noren Hooten, N., O'Driscoll, L., O'Grady, T., O'Loghlen, A., Ochiya, T., Olivier, M., Ortiz, A., Ortiz, L. A., Osteikoetxea, X., Ostegaard, O., Ostrowski, M., Park, J., Pegtel, D. M., Peinado, H., Perut, F., Pfaffl, M. W., Phinney, D. G., Pieters, B. C. H., Pink, R. C., Pisetsky, D. S., Pogge von Strandmann, E., Polakovicova, I., Poon, I. K. H., Powell, B. H., Prada, I., Pulliam, L., Quesenberry, P., Radeghieri, A., Raffai, R. L., Raimondo, S., Rak, J., Ramirez, M. I., Raposo, G., Rayyan, M. S., Regev-Rudzki, N., Ricklefs, F. L., Robbins, P. D., Roberts, D. D., Rodrigues, S. C., Rohde, E., Rome, S., Rouschop, K. M. A., Rughetti, A., Russell, A. E., Saa, P., Sahoo, S., Salas-Huenuleo, E., Sanchez, C., Saugstad, J. A., Saul, M. J., Schiffelers, R. M., Schneider, R., Schoyen, T. H., Scott, A., Shahaj, E., Sharma, S., Shatnyeva, O., Shekari, F., Shelke, G. V., Shetty, A. K., Shiba, K., Siljander, P. R. -M., Silva, A. M., Skowronek, A., Snyder, O. L., Soares, R. P., Sodar, B. W., Soekmadji, C., Sotillo, J., Stahl, P. D., Stoorvogel, W., Stott, S. L., Strasser, E. F., Swift, S., Tahara, H., Tewari, M., Timms, K., Tiwari, S., Tixeira, R., Tkach, M., Toh, W. S., Tomasini, R., Torrecilhas, A. C., Tosar, J. P., Toxavidis, V., Urbanelli, L., Vader, P., van Balkom, B. W. M., van der Grein, S. G., Van Deun, J., van Herwijnen, M. J. C., Van Keuren-Jensen, K., van Niel, G., van Royen, M. E., van Wijnen, A. J., Vasconcelos, M. H., Vechetti, I. J., Veit, T. D., Vella, L. J., Velot, E., Verweij, F. J., Vestad, B., Vinas, J. L., Visnovitz, T., Vukman, K. V., Wahlgren, J., Watson, D. C., Wauben, M. H. M., Weaver, A., Webber, J. P., Weber, V., Wehman, A. M., Weiss, D. J., Welsh, J. A., Wendt, S., Wheelock, A. M., Wiener, Z., Witte, L., Wolfram, J., Xagorari, A., Xander, P., Xu, J., Yan, X., Yanez-Mo, M., Yin, H., Yuana, Y., Zappulli, V., Zarubova, J., Zekas, V., Zhang, J. -Y., Zhao, Z., Zheng, L., Zheutlin, A. R., Zickler, A. M., Zimmermann, P., Zivkovic, A. M., Zocco, D., Zuba-Surma, E. K., dB&C I&I, LS Celbiologie-Algemeen, Celbiologie, Afd Pharmaceutics, Sub General Pharmaceutics, Sub Biomol.Mass Spect. and Proteomics, Afd Pharmacology, CCA - Imaging and biomarkers, Amsterdam Neuroscience - Neuroinfection & -inflammation, and Amsterdam Neuroscience - Cellular & Molecular Mechanisms
Subjects: ectosome, ectosomes, exosomes, extracellular vesicles, guidelines, microparticles, microvesicles, minimal information requirements, reproducibility, rigor, standardization, Histology, Cell Biology, [SDV]Life Sciences [q-bio], size-exclusion, Medicine and Health Sciences, CELL-DERIVED MICROPARTICLES, FIELD-FLOW FRACTIONATION, requirements, circulating, ComputingMilieux_MISCELLANEOUS, Manchester Cancer Research Centre, lcsh:Cytology, PROSTATE-CANCER, microparticle, Cell interaction, microvesicle, chromatography, Position Paper, guideline, Life Sciences & Biomedicine, ectosomes, exosomes, extracellular vesicles, guidelines, microparticles, microvesicles, minimal information requirements, reproducibility, rigor, standardization, MEMBRANE-VESICLES, FETAL BOVINE, Ectosomes, Exosomes, Extracellular Vesicles, Guidelines, Microparticles, Microvesicles, Minimal Information Requirements, Reproducibility, Rigor, Standardization, CIRCULATING MICROPARTICLES, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, ddc:570, exosome, SURFACE-PLASMON RESONANCE, ddc:610, lcsh:QH573-671, Biology, Interacció cel·lular, Science & Technology, ResearchInstitutes_Networks_Beacons/mcrc, Cell membranes, HUMAN URINARY EXOSOMES, PREANALYTICAL PARAMETERS, minimal information requirement, SIZE-EXCLUSION CHROMATOGRAPHY, 1182 Biochemistry, cell and molecular biology, extracellular vesicle, Human medicine, Membranes cel·lulars
Abstract: The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles ("MISEV") guidelines for the field in 2014. We now update these "MISEV2014" guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
Published: 2018

16. From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

Author: Sassine S, Remy A, Demaret T, Proulx F, Autmizguine J, Kakkar F, Tran TH, Laverdière C, Cunan ET, Maftei C, Mitchell G, Decaluwe H, and Hindié J
Abstract: A 2.5-month-old girl admitted for failure to thrive and severe pancytopenia was diagnosed with methylmalonic acidemia (MMA) secondary to transcobalamin II deficiency, an inborn error of vitamin B12 metabolism. Opportunistic Cytomegalovirus and Pneumocystis jirovecii pneumonia led to severe acute respiratory distress syndrome (ARDS) and immune reconstitution inflammatory syndrome (IRIS) after treatment initiation with vitamin B12 supplementation. In children with interstitial pneumonia-related ARDS, normal lymphocyte count should not delay invasive procedures required to document opportunistic infections. MMA can be associated with underlying lymphocyte dysfunction and vitamin B12 supplementation can fully reverse the associated immunodeficiency. IRIS may appear in highly treatment-responsive forms of pancytopenia in children and prompt treatment of dysregulated inflammation with high-dose corticosteroids should be initiated.
Published: 2024
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17. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Author: Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal É, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, Dezsőfi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly DA, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, Önal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, and Kamath BM
Subjects: Humans, Female, Male, Retrospective Studies, Child, Infant, Child, Preschool, Progression-Free Survival, Adolescent, Carrier Proteins, Membrane Glycoproteins, Alagille Syndrome complications, Alagille Syndrome drug therapy
Abstract: Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study., Approach and Results: Maralixibat trials comprise 84 patients with ALGS with up to 6 years of treatment. GALA contains retrospective data from 1438 participants. GALA was filtered to align with key maralixibat eligibility criteria, yielding 469 participants. Serum bile acids could not be included in the GALA filtering criteria as these are not routinely performed in clinical practice. Index time was determined through maximum likelihood estimation in an effort to align the disease severity between the two cohorts with the initiation of maralixibat. Event-free survival, defined as the time to first event of manifestations of portal hypertension (variceal bleeding, ascites requiring therapy), surgical biliary diversion, liver transplant, or death, was analyzed by Cox proportional hazards methods. Sensitivity analyses and adjustments for covariates were applied. Age, total bilirubin, gamma-glutamyl transferase, and alanine aminotransferase were balanced between groups with no statistical differences. Event-free survival in the maralixibat cohort was significantly better than the GALA cohort (HR, 0.305; 95% CI, 0.189-0.491; p <0.0001). Multiple sensitivity and subgroup analyses (including serum bile acid availability) showed similar findings., Conclusions: This study demonstrates a novel application of a robust statistical method to evaluate outcomes in long-term intervention studies where placebo comparisons are not feasible, providing wide application for rare diseases. This comparison with real-world natural history data suggests that maralixibat improves event-free survival in patients with ALGS., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)
Published: 2024
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18. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Author: Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, and Mitchell GA
Subjects: Humans, Male, Female, Child, Preschool, Retrospective Studies, Oxidoreductases genetics, Child, Methylmalonic Acid blood, Homocystinuria drug therapy, Homocystinuria genetics, Infant, Mutation, Missense, Homozygote, Heterozygote, Homocysteine blood, Adolescent, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors drug therapy, Amino Acid Metabolism, Inborn Errors blood, Adult, Hydroxocobalamin administration & dosage, Hydroxocobalamin therapeutic use, Phenotype, Vitamin B 12 Deficiency genetics, Vitamin B 12 Deficiency drug therapy, Vitamin B 12 Deficiency blood, Vitamin B 12 blood, Carrier Proteins genetics
Abstract: Mutations in MMACHC cause cobalamin C disease (cblC, OMIM 277400), the commonest inborn error of vitamin B 12 metabolism. In cblC, deficient activation of cobalamin results in methylcobalamin and adenosylcobalamin deficiency, elevating methylmalonic acid (MMA) and total plasma homocysteine (tHcy). We retrospectively reviewed the medical files of seven cblC patients: three compound heterozygotes for the MMACHC (NM_015506.3) missense variant c.158T>C p.(Leu53Pro) in trans with the common pathogenic mutation c.271dupA (p.(Arg91Lysfs*14), "compounds"), and four c.271dupA homozygotes ("homozygotes"). Compounds receiving hydroxocobalamin intramuscular injection monotherapy had age-appropriate psychomotor performance and normal ophthalmological examinations. In contrast, c.271dupA homozygotes showed marked psychomotor retardation, retinopathy and feeding problems despite penta-therapy (hydroxocobalamin, betaine, folinic acid, l-carnitine and acetylsalicylic acid). Pretreatment levels of plasma and urine MMA and tHcy were higher in c.271dupA homozygotes than in compounds. Under treatment, levels of the compounds approached or entered the reference range but not those of c.271dupA homozygotes (tHcy: compounds 9.8-32.9 μM, homozygotes 41.6-106.8 (normal (N) < 14); plasma MMA: compounds 0.14-0.81 μM, homozygotes, 10.4-61 (N < 0.4); urine MMA: compounds 1.75-48 mmol/mol creatinine, homozygotes 143-493 (N < 10)). Patient skin fibroblasts all had low cobalamin uptake, but this was milder in compound cells. Also, the distribution pattern of cobalamin species was qualitatively different between cells from compounds and from homozygotes. Compared to the classic cblC phenotype presented by c.271dupA homozygous patients, c.[158T>C];[271dupA] compounds had mild clinical and biochemical phenotypes and responded strikingly to hydroxocobalamin monotherapy., Competing Interests: Declaration of competing interest The authors have no conflict of interest to declare., (Copyright © 2024 Elsevier Inc. All rights reserved.)
Published: 2024
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19. Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Author: Demaret T, Joyal JS, Karalis A, Parente F, Delrue MA, and Mitchell GA
Abstract: An 11-month-old girl with severe acidosis, lethargy and vomiting, was diagnosed with holocarboxylase synthetase deficiency. She received biotin and was stable until age 8 years when vomiting, severe acidosis, hypoglycemia, and hyperammonemia developed. Management with intravenous glucose aiming to stimulate anabolism led to hyperglycemic ketoacidosis. Insulin therapy rapidly corrected biochemical parameters, and clinical status improved. We propose that secondary Krebs cycle disturbances affecting pancreatic beta cells impaired glucose-stimulated insulin secretion, resulting in insulinopenia., Competing Interests: None., (© 2024 Published by Elsevier Inc.)
Published: 2024
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20. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Author: Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, and Distelmaier F
Subjects: Humans, Cellular Senescence genetics, DNA Damage, Hydroxyurea metabolism, Fibroblasts, Mutation, Adaptor Proteins, Signal Transducing metabolism, Rothmund-Thomson Syndrome genetics, Rothmund-Thomson Syndrome diagnosis, Rothmund-Thomson Syndrome pathology
Abstract: Purpose: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT (OMIM 615789)., Methods: Two newly identified and 4 published individuals with CRIPT variants were systematically compared with those with RTS using clinical data, computational analysis of photographs, histologic analysis of skin, and cellular studies on fibroblasts., Results: All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. Using computational gestalt analysis, CRIPT individuals showed greatest facial similarity with individuals with RTS. Skin biopsies revealed a high expression of senescence markers (p53/p16/p21) and the senescence-associated ß-galactosidase activity was elevated in CRIPT-deficient fibroblasts. RECQL4- and CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors and no or only mild sensitivity to genotoxic stress by ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate., Conclusion: CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. At the cellular level, RECQL4- and CRIPT-deficient cells display increased senescence, suggesting shared molecular mechanisms leading to the clinical phenotypes., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2023 American College of Medical Genetics and Genomics. All rights reserved.)
Published: 2023
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21. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.

Author: Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, and Kamath BM
Subjects: Humans, Child, Male, Female, Retrospective Studies, Alagille Syndrome epidemiology, Cholestasis, Hypertension, Portal etiology
Abstract: Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS., Approach and Results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced ≥1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those ≥10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those <5.0 mg/dl. Median TB levels between ≥5.0 and <10.0 mg/dl and >10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to ≥5.0 mg/dl, with 79% reaching adulthood with native liver ( p < 0.001)., Conclusions: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of American Association for the Study of Liver Diseases.)
Published: 2023
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22. Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

Author: Demaret T, Wintjens R, Sana G, Docquir J, Bertin F, Ide C, Monestier O, Karadurmus D, Benoit V, and Maystadt I
Subjects: Humans, Parathyroid Hormone metabolism, Parathyroid Hormone-Related Protein, Hyperphosphatemia, Hypocalcemia complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics
Abstract: PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define overlapping phenotypes based on their molecular etiology. iPPSD1 is associated with PTH1R variants and variable phenotypes including ossification anomalies and primary failure of tooth eruption but no endocrine disorder. Here we report on a 10-month-old child born from consanguineous parents, who presented with mild neurodevelopmental delay, seizures, enlarged fontanelles, round face, and bilateral clinodactyly. Hand x-rays showed diffuse delayed bone age, osteopenia, short metacarpal bones and cone-shaped distal phalanges. A diagnosis of PTH resistance was made on the basis of severe hypocalcemia, hyperphosphatemia, elevated PTH and normal vitamin D levels on blood sample. The patient was treated with calcium carbonate and alfacalcidol leading to rapid bio-clinical improvement. Follow-up revealed multiple agenesis of primary teeth and delayed teeth eruption, as well as Arnold-Chiari type 1 malformation requiring a ventriculoperitoneal shunt placement. GNAS gene analysis showed no pathogenic variation, but a likely pathogenic homozygous substitution c.723C>G p.(Asp241Glu) in PTH1R gene was found by trio-based whole exome sequencing. We studied the deleterious impact of the variant on the protein conformation with bioinformatics tools. In conclusion, our study reports for the first time PTH resistance in a child with a biallelic PTH1R mutation, extending thereby the clinical spectrum of iPPSD1 phenotypes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Demaret, Wintjens, Sana, Docquir, Bertin, Ide, Monestier, Karadurmus, Benoit and Maystadt.)
Published: 2022
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23. Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

Author: Demaret T, Lacaille F, Wicker C, Arnoux JB, Bouchereau J, Belloche C, Gitiaux C, Grevent D, Broissand C, Adjaoud D, Abi Warde MT, Plantaz D, Bekri S, de Lonlay P, and Brassier A
Subjects: Enzyme Replacement Therapy, Follow-Up Studies, Humans, Quality of Life, Retrospective Studies, Sterol Esterase therapeutic use, Wolman Disease drug therapy
Abstract: Background: Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age. In clinical trials, enzyme replacement therapy (ERT) with sebelipase alfa led to improved survival, growth and biological parameters in WD patients followed up to 5 years. Long-term follow-up and health-related quality of life (HRQoL) evaluation are lacking., Results: We performed a nationwide, retrospective study of sebelipase alfa in WD patients. Five patients with abolished LAL activity and bi-allelic LIPA mutations were included with a median follow-up of 7 years (1-10). ERT was initiated at a median age of 1 month (0-4). Infusion tolerance was excellent on the long-term with only one patient requiring systematic pre-medication. Cholestyramine, fat-soluble vitamin supplements and a specific diet (high in medium-chain triglycerides and low in long-chain fatty acids) were prescribed. Liver function tests, plasma lipid profiles, fat-soluble vitamin levels and growth parameters improved. Three patients transiently exhibited a neuromyopathic phenotype (footdrop gait, waddling walk or muscle fatigue) but electromyography and muscle strength testing were normal. At last follow-up, all patients were alive with normal growth parameters and a satisfactory HRQoL, no patient had special education needs, and one patient required parenteral nutrition since an acute gastroenteritis., Conclusions: Early ERT initiation allowed 100% survival with positive outcomes. Very long-term follow-up and hematopoietic stem cell transplantation while on ERT should be evaluated to strengthen the benefits of sebelipase alfa., (© 2021. The Author(s).)
Published: 2021
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24. High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1 -G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment.

Author: Demaret T, Evraerts J, Ravau J, Roumain M, Muccioli GG, Najimi M, and Sokal EM
Subjects: Animals, Biomarkers metabolism, Humans, Liver metabolism, Liver pathology, Male, Mice, Peroxisomes metabolism, Phenotype, Disease Models, Animal, Hepatocytes cytology, Hepatocytes transplantation, Zellweger Syndrome metabolism, Zellweger Syndrome pathology
Abstract: Genetic alterations in PEX genes lead to peroxisome biogenesis disorder. In humans, they are associated with Zellweger spectrum disorders (ZSD). No validated treatment has been shown to modify the dismal natural history of ZSD. Liver transplantation (LT) improved clinical and biochemical outcomes in mild ZSD patients. Hepatocyte transplantation (HT), developed to overcome LT limitations, was performed in a mild ZSD 4-year-old child with encouraging short-term results. Here, we evaluated low dose (12.5 million hepatocytes/kg) and high dose (50 million hepatocytes/kg) syngeneic male HT via intrasplenic infusion in the Pex1 -G844D NMRI mouse model which recapitulates a mild ZSD phenotype. HT was feasible and safe in growth retarded ZSD mice. Clinical (weight and food intake) and biochemical parameters (very long-chain fatty acids, abnormal bile acids, etc.) were in accordance with ZSD phenotype but they were not robustly modified by HT. As expected, one third of the infused cells were detected in the liver 24 h post-HT. No liver nor spleen microchimerism was detected after 7, 14 and 30 days. Future optimizations are required to improve hepatocyte engraftment in Pex1 -G844D NMRI mouse liver. The mouse model exhibited the robustness required for ZSD liver-targeted therapies evaluation.
Published: 2020
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25. Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome.

Author: Rock NM, Demaret T, Stéphenne X, Scheers I, Smets F, McLin VA, Boschi A, and Sokal EM
Subjects: Child, Humans, Alagille Syndrome complications, Alagille Syndrome diagnosis, Eye Diseases, Hereditary complications, Eye Diseases, Hereditary diagnosis, Intracranial Hypertension complications, Intracranial Hypertension diagnosis, Optic Nerve Diseases, Papilledema etiology
Abstract: Aims and Background: Ophthalmic abnormalities are amongst the 5 major criteria required for a diagnosis of Alagille syndrome (ALGS), of which embryotoxon, pseudopapilledema, and hypopigmented retinopathy are the most common. Papilledema with or without intracranial hypertension (ICHT) is rarely described. We report 9 pediatric cases of ALGS with bilateral papilledema, 5 of which were diagnosed with ICHT., Methods: The ophthalmic data from 85 patients with clinically and/or genetically (n = 37) proven ALGS were reviewed. The study inclusion criteria were a positive diagnosis of ALGS and availability of ophthalmic follow-up data. Ophthalmic data from 40 patients after liver transplantation (LT) for other indications were also analyzed., Results: Nine (13.0%) of the 69 patients meeting the inclusion criteria had papilledema. The neurological and neuroimaging results in all 9 patients were normal. These 9 patients were categorized into 4 groups: a nontransplant group (n = 1), a group with pretransplant papilledema persistent after LT (n = 2), a group with papilledema occurring after LT with spontaneous resolution (n = 1), and a group with papilledema and signs of ICHT after LT (n = 5). The patients with ICHT were treated with steroids alone (n = 1) or with acetazolamide (n = 4). A ventriculoperitoneal shunt was placed in 2 of the 5 cases because of progressive visual loss. Pseudopapilledema was present in 10 additional patients (14.5%, 10/69). One (2.5%) of the 40 patients without ALGS developed papilledema after LT., Conclusions: True ICHT may be underdiagnosed in patients with ALGS. Our findings underscore the need for close ophthalmic follow-up before and after LT in these patients.
Published: 2020
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26. Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.

Author: Demaret T, Roumain M, Ambroise J, Evraerts J, Ravau J, Bouzin C, Bearzatto B, Gala JL, Stepman H, Marie S, Vincent MF, Muccioli GG, Najimi M, and Sokal EM
Subjects: ATPases Associated with Diverse Cellular Activities genetics, Alleles, Animals, Bile Acids and Salts metabolism, Cell Membrane metabolism, Female, Glucose-6-Phosphatase metabolism, Hepatocytes metabolism, Longitudinal Studies, Male, Membrane Proteins metabolism, Mice, Mice, Inbred C57BL, Oxysterols metabolism, RNA-Seq, Zellweger Syndrome genetics, ATPases Associated with Diverse Cellular Activities metabolism, Zellweger Syndrome metabolism
Abstract: Zellweger spectrum disorders (ZSD) are inborn errors of metabolism caused by mutations in PEX genes that lead to peroxisomal biogenesis disorder (PBD). No validated treatment is able to modify the dismal progression of the disease. ZSD mouse models used to develop therapeutic approaches are limited by poor survival and breeding restrictions. To overcome these limitations, we backcrossed the hypomorphic Pex1 p.G844D allele to NMRI background. NMRI mouse breeding restored an autosomal recessive Mendelian inheritance pattern and delivered twice larger litters. Mice were longitudinally phenotyped up to 6 months of age to make this model suitable for therapeutic interventions. ZSD mice exhibited growth retardation and relative hepatomegaly associated to progressive hepatocyte hypertrophy. Biochemical studies associated with RNA sequencing deciphered ZSD liver glycogen metabolism alterations. Affected fibroblasts displayed classical immunofluorescence pattern and biochemical alterations associated with PBD. Plasma and liver showed very long-chain fatty acids, specific oxysterols and C 27 bile acids intermediates elevation in ZSD mice along with a specific urine organic acid profile. With ageing, C 26 fatty acid and phytanic acid levels tended to normalize in ZSD mice, as described in patients reaching adulthood. In conclusion, our mouse model recapitulates a mild ZSD phenotype and is suitable for liver-targeted therapies evaluation., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier B.V. All rights reserved.)
Published: 2020
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27. Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.

Author: Demaret T, Courtoy GE, Ravau J, Van Der Smissen P, Najimi M, and Sokal EM
Subjects: Animals, Cells, Cultured, Fibroblasts metabolism, Fibroblasts pathology, Green Fluorescent Proteins metabolism, Humans, Mice, Zellweger Syndrome pathology, Green Fluorescent Proteins genetics, Peroxisomal Targeting Signals genetics, Peroxisomes metabolism, Zellweger Syndrome metabolism
Abstract: Peroxisomes are ubiquitous organelles formed by peroxisome biogenesis (PB). During PB, peroxisomal matrix proteins harboring a peroxisome targeting signal (PTS) are imported inside peroxisomes by peroxins, encoded by PEX genes. Genetic alterations in PEX genes lead to a spectrum of incurable diseases called Zellweger spectrum disorders (ZSD). In vitro drug screening is part of the quest for a cure in ZSD by restoring PB in ZSD cell models. In vitro PB evaluation is commonly achieved by immunofluorescent staining or transient peroxisome fluorescent reporter expression. Both techniques have several drawbacks (cost, time-consuming technique, etc.) which we overcame by developing a third-generation lentiviral transfer plasmid expressing an enhanced green fluorescent protein fused to PTS1 (eGFP-PTS1). By eGFP-PTS1 lentiviral transduction, we quantified PB and peroxisome motility in ZSD and control mouse and human fibroblasts. We confirmed the stable eGFP-PTS1 expression along cell passages. eGFP signal analysis distinguished ZSD from control eGFP-PTS1-transduced cells. Live eGFP-PTS1 transduced cells imaging quantified peroxisomes motility. In conclusion, we developed a lentiviral transfer plasmid allowing stable eGFP-PTS1 expression to study PB (deposited on Addgene: #133282). This tool meets the needs for in vitro PB evaluation and ZSD drug discovery.
Published: 2020
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28. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines.

Author: Théry C, Witwer KW, Aikawa E, Alcaraz MJ, Anderson JD, Andriantsitohaina R, Antoniou A, Arab T, Archer F, Atkin-Smith GK, Ayre DC, Bach JM, Bachurski D, Baharvand H, Balaj L, Baldacchino S, Bauer NN, Baxter AA, Bebawy M, Beckham C, Bedina Zavec A, Benmoussa A, Berardi AC, Bergese P, Bielska E, Blenkiron C, Bobis-Wozowicz S, Boilard E, Boireau W, Bongiovanni A, Borràs FE, Bosch S, Boulanger CM, Breakefield X, Breglio AM, Brennan MÁ, Brigstock DR, Brisson A, Broekman ML, Bromberg JF, Bryl-Górecka P, Buch S, Buck AH, Burger D, Busatto S, Buschmann D, Bussolati B, Buzás EI, Byrd JB, Camussi G, Carter DR, Caruso S, Chamley LW, Chang YT, Chen C, Chen S, Cheng L, Chin AR, Clayton A, Clerici SP, Cocks A, Cocucci E, Coffey RJ, Cordeiro-da-Silva A, Couch Y, Coumans FA, Coyle B, Crescitelli R, Criado MF, D'Souza-Schorey C, Das S, Datta Chaudhuri A, de Candia P, De Santana EF, De Wever O, Del Portillo HA, Demaret T, Deville S, Devitt A, Dhondt B, Di Vizio D, Dieterich LC, Dolo V, Dominguez Rubio AP, Dominici M, Dourado MR, Driedonks TA, Duarte FV, Duncan HM, Eichenberger RM, Ekström K, El Andaloussi S, Elie-Caille C, Erdbrügger U, Falcón-Pérez JM, Fatima F, Fish JE, Flores-Bellver M, Försönits A, Frelet-Barrand A, Fricke F, Fuhrmann G, Gabrielsson S, Gámez-Valero A, Gardiner C, Gärtner K, Gaudin R, Gho YS, Giebel B, Gilbert C, Gimona M, Giusti I, Goberdhan DC, Görgens A, Gorski SM, Greening DW, Gross JC, Gualerzi A, Gupta GN, Gustafson D, Handberg A, Haraszti RA, Harrison P, Hegyesi H, Hendrix A, Hill AF, Hochberg FH, Hoffmann KF, Holder B, Holthofer H, Hosseinkhani B, Hu G, Huang Y, Huber V, Hunt S, Ibrahim AG, Ikezu T, Inal JM, Isin M, Ivanova A, Jackson HK, Jacobsen S, Jay SM, Jayachandran M, Jenster G, Jiang L, Johnson SM, Jones JC, Jong A, Jovanovic-Talisman T, Jung S, Kalluri R, Kano SI, Kaur S, Kawamura Y, Keller ET, Khamari D, Khomyakova E, Khvorova A, Kierulf P, Kim KP, Kislinger T, Klingeborn M, Klinke DJ 2nd, Kornek M, Kosanović MM, Kovács ÁF, Krämer-Albers EM, Krasemann S, Krause M, Kurochkin IV, Kusuma GD, Kuypers S, Laitinen S, Langevin SM, Languino LR, Lannigan J, Lässer C, Laurent LC, Lavieu G, Lázaro-Ibáñez E, Le Lay S, Lee MS, Lee YXF, Lemos DS, Lenassi M, Leszczynska A, Li IT, Liao K, Libregts SF, Ligeti E, Lim R, Lim SK, Linē A, Linnemannstöns K, Llorente A, Lombard CA, Lorenowicz MJ, Lörincz ÁM, Lötvall J, Lovett J, Lowry MC, Loyer X, Lu Q, Lukomska B, Lunavat TR, Maas SL, Malhi H, Marcilla A, Mariani J, Mariscal J, Martens-Uzunova ES, Martin-Jaular L, Martinez MC, Martins VR, Mathieu M, Mathivanan S, Maugeri M, McGinnis LK, McVey MJ, Meckes DG Jr, Meehan KL, Mertens I, Minciacchi VR, Möller A, Møller Jørgensen M, Morales-Kastresana A, Morhayim J, Mullier F, Muraca M, Musante L, Mussack V, Muth DC, Myburgh KH, Najrana T, Nawaz M, Nazarenko I, Nejsum P, Neri C, Neri T, Nieuwland R, Nimrichter L, Nolan JP, Nolte-'t Hoen EN, Noren Hooten N, O'Driscoll L, O'Grady T, O'Loghlen A, Ochiya T, Olivier M, Ortiz A, Ortiz LA, Osteikoetxea X, Østergaard O, Ostrowski M, Park J, Pegtel DM, Peinado H, Perut F, Pfaffl MW, Phinney DG, Pieters BC, Pink RC, Pisetsky DS, Pogge von Strandmann E, Polakovicova I, Poon IK, Powell BH, Prada I, Pulliam L, Quesenberry P, Radeghieri A, Raffai RL, Raimondo S, Rak J, Ramirez MI, Raposo G, Rayyan MS, Regev-Rudzki N, Ricklefs FL, Robbins PD, Roberts DD, Rodrigues SC, Rohde E, Rome S, Rouschop KM, Rughetti A, Russell AE, Saá P, Sahoo S, Salas-Huenuleo E, Sánchez C, Saugstad JA, Saul MJ, Schiffelers RM, Schneider R, Schøyen TH, Scott A, Shahaj E, Sharma S, Shatnyeva O, Shekari F, Shelke GV, Shetty AK, Shiba K, Siljander PR, Silva AM, Skowronek A, Snyder OL 2nd, Soares RP, Sódar BW, Soekmadji C, Sotillo J, Stahl PD, Stoorvogel W, Stott SL, Strasser EF, Swift S, Tahara H, Tewari M, Timms K, Tiwari S, Tixeira R, Tkach M, Toh WS, Tomasini R, Torrecilhas AC, Tosar JP, Toxavidis V, Urbanelli L, Vader P, van Balkom BW, van der Grein SG, Van Deun J, van Herwijnen MJ, Van Keuren-Jensen K, van Niel G, van Royen ME, van Wijnen AJ, Vasconcelos MH, Vechetti IJ Jr, Veit TD, Vella LJ, Velot É, Verweij FJ, Vestad B, Viñas JL, Visnovitz T, Vukman KV, Wahlgren J, Watson DC, Wauben MH, Weaver A, Webber JP, Weber V, Wehman AM, Weiss DJ, Welsh JA, Wendt S, Wheelock AM, Wiener Z, Witte L, Wolfram J, Xagorari A, Xander P, Xu J, Yan X, Yáñez-Mó M, Yin H, Yuana Y, Zappulli V, Zarubova J, Žėkas V, Zhang JY, Zhao Z, Zheng L, Zheutlin AR, Zickler AM, Zimmermann P, Zivkovic AM, Zocco D, and Zuba-Surma EK
Abstract: The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles ("MISEV") guidelines for the field in 2014. We now update these "MISEV2014" guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
Published: 2018
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29. Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Author: Demaret T, Varma S, Stephenne X, Smets F, Scheers I, Wanders R, Van Maldergem L, Reding R, and Sokal E
Subjects: Adolescent, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Male, Liver Transplantation, Living Donors, Zellweger Syndrome surgery
Abstract: Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. LT was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment. Of three patients having undergone LT for mild ZSD, one died after LT, while the other two displayed significant neurodevelopmental improvement on both the long-term (17 years post-LT) and short-term (9 months post-LT) follow-up. We documented a sustained improvement of biochemical functions, with a complete normalization of plasma phytanic, pristanic, and pipecolic acid levels. This was associated with stabilization of hearing and visual functions, and improved neurodevelopmental status, which has enabled the older patient to lead a relatively autonomous lifestyle on the long term. The psychomotor acquisitions have been markedly improved as compared to their affected siblings, who did not undergo LT and exhibited a poor neurological outcome with severe disabilities. We speculate that LT performed before the onset of severe sensorineural defects in mild ZSD enables partial metabolic remission and improved long-term clinical outcomes., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Published: 2018
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29 results on '"Demaret, T."'

1. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

2. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

3. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

4. Natural history of liver disease in a large international cohort of children with Alagille syndrome: results from The GALA Study

5. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

6. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome

7. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

8. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome

9. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

10. Liver transplantation does not impact the renal function outcome in Alagille syndrome

11. Liver transplantation does not impact the renal function outcome in Alagille syndrome

12. Comment faire de la fiche d’entreprise un outil de prévention primaire des risques psychosociaux ?

13. Nutritional, digestive and liver evolution of patients with lysosomal acid lipase deficiency treated with Sebelipase alfa.

14. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

15. Minimal information for studies of extracellular vesicles 2018 (MISEV2018):a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

16. From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

17. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

18. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

19. Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

20. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

21. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.

22. Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

23. Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

24. High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1 -G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment.

25. Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome.

26. Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.

27. Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.

28. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines.

29. Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

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29 results on '"Demaret, T."'

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