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3. Annual Academy of Sickle Cell and Thalassaemia (ASCAT) conference: a summary of the proceedings

Author

Strunk, Crawford, Campbell, Andrew, Colombatti, Raffaella, Andemariam, Biree, Kesse-Adu, Rachel, Treadwell, Marsha, and Inusa, Baba PD

Subjects
Medical Biotechnology, Biomedical and Clinical Sciences, Hematology, Rare Diseases, Sickle Cell Disease, Blood, ASCAT conference, Anaemia, Blood transfusion, Bone marrow transplantation, Sickle cell disease, Thalassaemia
Abstract

The fourteenth annual ASCAT conference was held 21-23 October 2019. The theme of the conference was 'Sickle Cell and Thalassaemia disorders new treatment horizon; while ensuring patient safety and delivering excellence in routine patient care.' Over the three-day conference, topics on current and novel models of care, advances in bone marrow transplant and gene therapy, as well as the psychosocial aspects of mind, body and health related quality of life were discussed. In addition, blood transfusion, apheresis, iron chelation therapy and acute haemolytic complications were presented. Quality standards in the diagnosis and treatment of sickle cell and thalassaemia were reviewed. Experts from Europe, the United Kingdom, the Middle East, the United States and Africa reported up-to-date scientific data, guides to comprehensive care, and current research into developing cures and advancing current therapy were described. In addition, oral and poster presentations on novel research from all over the world were shown during the conference.

Published
2020

4. Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective

Author

Mañú Pereira, María del Mar, Colombatti, Raffaella, Alvarez, Federico, Bartolucci, Pablo, Bento, Celeste, Brunetta, Angelo Loris, Cela, Elena, Christou, Soteroula, Collado, Anna, de Montalembert, Mariane, Dedeken, Laurence, Fenaux, Pierre, Galacteros, Frédéric, Glenthøj, Andreas, Gutiérrez Valle, Victoria, Kattamis, Antonis, Kunz, Joachim, Lobitz, Stephan, McMahon, Corrina, Pellegrini, Mariangela, Reidel, Sara, Russo, Giovanna, Santos Freire, Miriam, van Beers, Eduard, Kountouris, Petros, and Gulbis, Béatrice

Published
2023
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5. Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission

Author

Piel, Frédéric B, Rees, David C, DeBaun, Michael R, Nnodu, Obiageli, Ranque, Brigitte, Thompson, Alexis A, Ware, Russell E, Abboud, Miguel R, Abraham, Allistair, Ambrose, Emmanuela E, Andemariam, Biree, Colah, Roshan, Colombatti, Raffaella, Conran, Nicola, Costa, Fernando F, Cronin, Robert M, de Montalembert, Mariane, Elion, Jacques, Esrick, Erica, Greenway, Anthea L, Idris, Ibrahim M, Issom, David-Zacharie, Jain, Dipty, Jordan, Lori C, Kaplan, Zane S, King, Allison A, Lloyd-Puryear, Michele, Oppong, Samuel A, Sharma, Akshay, Sung, Lillian, Tshilolo, Leon, Wilkie, Diana J, and Ohene-Frempong, Kwaku

Published
2023
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6. Lipoarabinomannan antigenic epitope differences in tuberculosis disease subtypes.

Author

Magni, Ruben, Rruga, Fatlum, Alsaab, Fahad M, Sharif, Sara, Howard, Marissa, Espina, Virginia, Kim, Brianna, Lepene, Benjamin, Lee, Gwenyth, Alayouni, Mohamad A, Steinberg, Hannah, Araujo, Robyn, Kashanchi, Fatah, Riccardi, Fabio, Morreira, Sargento, Araujo, Antonia, Poli, Fernando, Jaganath, Devan, Semitala, Fred C, Worodria, William, Andama, Alfred, Choudhary, Alok, Honnen, William J, Petricoin, Emanuel F, Cattamanchi, Adithya, Colombatti, Raffaella, de Waard, Jacobus H, Oberhelman, Richard, Pinter, Abraham, Gilman, Robert H, Liotta, Lance A, and Luchini, Alessandra

Subjects
Humans, Mycobacterium tuberculosis, Tuberculosis, Tuberculosis, Pulmonary, HIV Infections, Lipopolysaccharides, Epitopes, Immunologic Tests, Immunoassay, Sensitivity and Specificity, Adult, Middle Aged, Point-of-Care Systems, Uganda, Guinea-Bissau, United States, Peru, Venezuela, Female, Male, Coinfection
Abstract

An accurate urine test for diverse populations with active tuberculosis could be transformative for preventing TB deaths. Urinary liporabinomannan (LAM) testing has been previously restricted to HIV co-infected TB patients. In this study we evaluate urinary LAM in HIV negative, pediatric and adult, pulmonary and extrapulmonary tuberculosis patients. We measured 430 microbiologically confirmed pretreatment tuberculosis patients and controls from Peru, Guinea Bissau, Venezuela, Uganda and the United States using three monoclonal antibodies, MoAb1, CS35, and A194, which recognize distinct LAM epitopes, a one-sided immunoassay, and blinded cohorts. We evaluated sources of assay variability and comorbidities (HIV and diabetes). All antibodies successfully discriminated TB positive from TB negative patients. ROAUC from the average of three antibodies' responses was 0.90; 95% CI 0.87-0.93, 90% sensitivity, 73.5% specificity (80 pg/mL). MoAb1, recognizing the 5-methylthio-D-xylofuranose(MTX)-mannose(Man) cap epitope, performed the best, was less influenced by glycosuria and identified culture positive pediatric (N = 19) and extrapulmonary (N = 24) patients with high accuracy (ROAUC 0.87, 95% CI 0.77-0.98, 0.90 sensitivity 0.80 specificity at 80 pg/mL; ROAUC = 0.96, 95% CI 0.92-0.99, 96% sensitivity, 80% specificity at 82 pg/mL, respectively). The MoAb1 antibody, recognizing the MTX-Man cap epitope, is a novel analyte for active TB detection in pediatric and extrapulmonary disease.

Published
2020

8. Global geographic differences in healthcare utilization for sickle cell disease pain crises in the CASiRe cohort

Author

Strunk, Crawford, Tartaglione, Immacolata, Piccone, Connie M., Colombatti, Raffaella, Andemariam, Biree, Manwani, Deepa, Smith, Ashya, Haile, Haikel, Kim, Esther, Wilson, Samuel, Asare, Eugenia Vicky, Rivers, Angela, Farooq, Fatimah, Urbonya, Rebekah, Boruchov, Donna, Boatemaa, Gifty Dankwah, Perrotta, Silverio, Ekem, Ivy, Sainati, Laura, Rao, Sudha, Zempsky, William, Sey, Fredericka, Antwi-Boasiako, Charles, Segbefia, Catherine, Inusa, Baba, and Campbell, Andrew D.

Published
2021
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10. Early‐onset indicators of a hypercoagulable state and clinical complications in a cohort of children with sickle cell trait

Author

Reggiani, Giulia, primary, Boaro, Maria Paola, additional, Menzato, Federica, additional, De Bon, Emiliano, additional, Bertomoro, Antonella, additional, Casonato, Alessandra, additional, Lucente, Fabrizio, additional, Fortino, Cecilia, additional, Sartori, MariaTeresa, additional, Steffan, Agostino, additional, Martella, Maddalena, additional, D'Agnolo, Mirco, additional, Sainati, Laura, additional, and Colombatti, Raffaella, additional

Published
2024
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12. Age of first pain crisis and associated complications in the CASiRe international sickle cell disease cohort

Author

Tartaglione, Immacolata, Strunk, Crawford, Antwi-Boasiako, Charles, Andemariam, Biree, Colombatti, Raffaella, Asare, Eugenia Vicky, Piccone, Connie M., Manwani, Deepa, Boruchov, Donna, Tavernier, Fitz, Farooq, Fatimah, Akatue, Sophia, Oteng, Bianca, Urbonya, Rebekah, Wilson, Samuel, Owda, Ahmed, Bamfo, Rose, Boatemaa, Gifty Dankwah, Rao, Sudha, Zempsky, William, Sey, Fredericka, Inusa, Baba PD, Perrotta, Silverio, Segbefia, Catherine, and Campbell, Andrew D.

Published
2021
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15. Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.

Author

de Guimaraes, Thales A. C., Lai, Francesco, Colombatti, Raffaella, Sato, Giovanni, Rizzo, Roberta, Kalitzeos, Angelos, and Michaelides, Michel

Subjects
RETINAL degeneration, RETINAL diseases, ADAPTIVE optics, GENETIC testing, RETINAL imaging
Abstract

Background: Disease-causing variants in the KCNV2 gene are associated with "cone dystrophy with supernormal rod responses," a rare autosomal recessive retinal dystrophy. There is no previous report of hypomorphic variants in the disease. Material and Methods: Medical history, genetic testing, ocular examination, high-resolution retinal imaging including adaptive optics scanning light ophthalmoscopy (AOSLO), and functional assessments. Results: A 16-year-old male with mild cone-rod dystrophy presented with reduced central vision and photophobia. Genetic testing showed two variants in KCNV2, c.614_617dupAGCG (p.207AlafsTer166) and c.854T>G (p.Met285Arg), the latter which was previously considered benign. Electrophysiological assessment revealed the pathognomic electroretinogram waveforms associated with KCNV2-retinopathy. Optical coherence tomography showed discrete focal ellipsoid zone disruption, while fundus autofluorescence was normal. Non-waveguiding cones corresponding to areas of loss of photoreceptor integrity were visible on adaptive optics scanning light ophthalmoscopy. Retinal sensitivity and fixation were relatively preserved, with a demonstrable deterioration after 14 months of follow-up. Conclusions: We provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in KCNV2. [ABSTRACT FROM AUTHOR]

Published
2024
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16. An Analysis of Racial and Ethnic Backgrounds Within the CASiRe International Cohort of Sickle Cell Disease Patients: Implications for Disease Phenotype and Clinical Research

Author

Campbell, Andrew D., Colombatti, Raffaella, Andemariam, Biree, Strunk, Crawford, Tartaglione, Immacolata, Piccone, Connie M., Manwani, Deepa, Asare, Eugenia Vicky, Boruchov, Donna, Farooq, Fatimah, Urbonya, Rebekah, Boatemaa, Gifty Dankwah, Perrotta, Silverio, Sainati, Laura, Rivers, Angela, Rao, Sudha, Zempsky, William, Sey, Fredericka, Segbefia, Catherine, Inusa, Baba, and Antwi-Boasiako, Charles

Published
2021
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17. Author Correction: Lipoarabinomannan antigenic epitope differences in tuberculosis disease subtypes

Author

Magni, Ruben, Rruga, Fatlum, Alsaab, Fahad M., Sharif, Sara, Howard, Marissa, Espina, Virginia, Kim, Brianna, Lepene, Benjamin, Lee, Gwenyth, Alayouni, Mohamad A., Steinberg, Hannah, Araujo, Robyn, Kashanchi, Fatah, Riccardi, Fabio, Morreira, Sargento, Araujo, Antonia, Poli, Fernando, Jaganath, Devan, Semitala, Fred C., Worodria, William, Andama, Alfred, Choudhary, Alok, Honnen, William J., Petricoin, III, Emanuel F., Cattamanchi, Adithya, Colombatti, Raffaella, de Waard, Jacobus H., Oberhelman, Richard, Pinter, Abraham, Gilman, Robert H., Liotta, Lance A., and Luchini, Alessandra

Published
2021
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19. A study of the geographic distribution and associated risk factors of leg ulcers within an international cohort of sickle cell disease patients: the CASiRe group analysis

Author

Antwi-Boasiako, Charles, Andemariam, Biree, Colombatti, Raffaella, Asare, Eugenia Vicky, Strunk, Crawford, Piccone, Connie M., Manwani, Deepa, Boruchov, Donna, Farooq, Fatimah, Urbonya, Rebekah, Wilson, Samuel, Boatemaa, Gifty Dankwah, Perrotta, Silverio, Sainati, Laura, Rivers, Angela, Rao, Sudha, Zempsky, William, Ekem, Ivy, Sey, Fredericka, Segbefia, Catherine, Inusa, Baba, Tartaglione, Immacolata, and Campbell, Andrew D.

Published
2020
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20. Monitoring oral iron therapy in children with iron deficiency anemia: an observational, prospective, multicenter study of AIEOP patients (Associazione Italiana Emato-Oncologia Pediatrica)

Author

Russo, Giovanna, Guardabasso, Vincenzo, Romano, Francesca, Corti, Paola, Samperi, Piera, Condorelli, Annalisa, Sainati, Laura, Maruzzi, Matteo, Facchini, Elena, Fasoli, Silvia, Giona, Fiorina, Caselli, Désirée, Pizzato, Cristina, Marinoni, Maddalena, Boscarol, Gianluca, Bertoni, Elisa, Casciana, Maria Luisa, Tucci, Fabio, Capolsini, Ilaria, Notarangelo, Lucia Dora, Giordano, Paola, Ramenghi, Ugo, and Colombatti, Raffaella

Published
2020
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21. Pain Frequency and Health Care Utilization Patterns in Women with Sickle Cell Disease Experiencing Menstruation-Associated Pain Crises

Author

Segbefia, Catherine, primary, Campbell, Jillian, additional, Tartaglione, Immacolata, additional, Asare, Eugenia Vicky, additional, Andemariam, Biree, additional, Zempsky, William, additional, Colombatti, Raffaella, additional, Boatemaa, Gifty Dankwah, additional, Boruchov, Donna, additional, Rao, Sudha, additional, Piccone, Connie M., additional, Smith, Ashya, additional, Haile, Haikel, additional, Kim, Esther, additional, Wilson, Samuel, additional, Farooq, Fatimah, additional, Urbonya, Rebekah, additional, Rivers, Angela, additional, Manwani, Deepa, additional, Gai, Jiaxiang, additional, Sey, Fredericka, additional, Inusa, Baba, additional, Antwi-Boasiako, Charles, additional, Strunk, Crawford, additional, and Campbell, Andrew D., additional

Published
2023
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22. CK2β Regulates Hematopoietic Stem Cell Biology and Erythropoiesis

Author

Quotti Tubi, Laura, primary, Canovas Nunes, Sara, additional, Mandato, Elisa, additional, Pizzi, Marco, additional, Vitulo, Nicola, additional, D’Agnolo, Mirco, additional, Colombatti, Raffaella, additional, Martella, Maddalena, additional, Boaro, Maria Paola, additional, Doriguzzi Breatta, Elena, additional, Fregnani, Anna, additional, Spinello, Zaira, additional, Nabergoj, Mitja, additional, Filhol, Odile, additional, Boldyreff, Brigitte, additional, Albiero, Mattia, additional, Fadini, Gian Paolo, additional, Gurrieri, Carmela, additional, Vianello, Fabrizio, additional, Semenzato, Gianpietro, additional, Manni, Sabrina, additional, Trentin, Livio, additional, and Piazza, Francesco, additional

Published
2023
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23. Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato‐Oncologia Pediatrica) study group

Author

Corti, Paola, primary, Ferrari, Giulia Maria, additional, Faraguna, Martha Caterina, additional, Capitoli, Giulia, additional, Longo, Filomena, additional, Corradini, Elena, additional, Casini, Tommaso, additional, Boscarol, Gianluca, additional, Pinto, Valeria Maria, additional, Ghilardi, Roberta, additional, Russo, Giovanna, additional, Colombatti, Raffaella, additional, Mariani, Raffaella, additional, and Piperno, Alberto, additional

Published
2023
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24. Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks

Author

Boaro, Maria Paola, primary, Reggiani, Giulia, additional, D’Agnolo, Mirco, additional, Munaretto, Vania, additional, Pozzebon, Francesco, additional, Trapanese, Roberta, additional, Martella, Maddalena, additional, and Colombatti, Raffaella, additional

Published
2023
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25. Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies.

Author

Colombatti, Raffaella, Cela, Elena, Elion, Jacques, and Lobitz, Stephan

Subjects
'Getting to Outcomes', (recommended) screening panel, ?-globin gene, Caribbean, G6PD deficiency, Guthrie spots, HPLC, IEF, India, Kaduna State, MALDI-TOF, Nigeria, Plasmodium vivax, Sickle Cell Disease, acute chest syndrome, anaemia, automated HPLC, birth prevalence, bone marrow transplant, burden of disease, capillary electrophoresis, cord blood, diagnostics, end-organ damage, foetal haemoglobin, gene therapy for haemoglobinopathies, glucose-6-phosphate dehydrogenase, haemolysis, harmonisation, health policy, hemoglobin pattern, hemoglobinopathies, hemoglobinopathy, high performance liquid chromatography (HPLC), hydroxyurea/hydroxycarbamide, implementation science, laboratory methods, malaria, mass spectrometry, methods, n/a, neonatal screening, neonatal screening program, newborn, newborn screening, newborn screening), non-tribal, pathophysiology, patient advocacy, patient organisations, patient representatives, point-of-care, policy making, prevention, public health engagement, registry, review, screening, service users, sickle cell and thalassaemia screening programme, sickle cell disease, sickle cell disease (SCD), sickle cell disorder, sub-Saharan Africa, thalassemia, tribal, vaso-occlusive crisis
Abstract

Summary: Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

26. Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

Author

Cela, Elena, Elion, Jacques, Lobitz, Stephan, and Colombatti, Raffaella

Abstract

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Published
2019

28. P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE

Author

Solórzano González, José Martín, primary, Reidel, Sara Isabel, additional, Labidi, Ines, additional, Diot Lefebvre, Claire, additional, Tamana, Stella, additional, Gutierrez Valle, Victoria, additional, van Beers, Eduard, additional, Colombatti, Raffaella, additional, Bianchi, Paola, additional, Brunetta, Angelo Loris, additional, Peereboom, Dore, additional, Galactéros, Frédéric, additional, Russo, Giovanna, additional, Kattamis, Antonis, additional, Dedeken, Laurence, additional, Kunz, Joachim, additional, Cela, Elena, additional, Bento, Celeste, additional, Tedgard, Ulf, additional, Glenthøj, Andreas, additional, Christou, Soteroula, additional, Kleanthous, Marina, additional, Kountouris, Petros, additional, Gulbis, Beatrice, additional, and Mar Mañú Pereira, Maria Del, additional

Published
2023
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29. PB2518: OPTIMIZING THE DETECTION OF 2,3- DIPHOSPHOGLYCERATE IN DRIED BLOOD SPOTS OF PATIENTS WITH SICKLE CELL DISEASE: UNTARGETED METABOLOMICS WITHIN THE GENOMED4ALL PROJECT

Author

van der Veen, Sigrid, primary, van Dijk, Myrthe, additional, Biemond, Bart, additional, Cnossen, Marjon, additional, Colombatti, Raffaella, additional, Jans, Judith, additional, Mañú Pereira, Maria Del Mar, additional, Verhoeven, Nanda, additional, Van Wijk, Richard, additional, and van Beers, Eduard, additional

Published
2023
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34. Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato‐Oncologia Pediatrica) study group.

Author

Corti, Paola, Ferrari, Giulia Maria, Faraguna, Martha Caterina, Capitoli, Giulia, Longo, Filomena, Corradini, Elena, Casini, Tommaso, Boscarol, Gianluca, Pinto, Valeria Maria, Ghilardi, Roberta, Russo, Giovanna, Colombatti, Raffaella, Mariani, Raffaella, and Piperno, Alberto

Subjects
HEMOCHROMATOSIS, IRON chelates, GAIN-of-function mutations, MORPHOGENESIS, GENETIC disorders
Abstract

Summary: Haemochromatosis (HC) encompasses a range of genetic disorders. HFE‐HC is by far the most common in adults, while non‐HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain‐of‐function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood. We report clinical and biochemical data from 24 paediatric cases of HC (10 cases of HFE‐, 5 TFR2‐, 9 HJV‐HC), with a median follow‐up of 9.6 years. Unlike in the adult population, non‐HFE‐HC constitutes 58% (14/24) of the population in our series. Transferrin saturation was significantly higher in TFR2‐ and HJV‐HC compared to HFE‐HC, and serum ferritin and LIC were higher in HJV‐HC compared to TFR2‐ and HFE‐HC. Most HFE‐HC subjects had relatively low ferritin and LIC at the time of diagnosis, so therapy could be postponed for most of them after the age of 18. Our results confirm that HJV‐HC is a severe form already in childhood, emphasizing the importance of early diagnosis and treatment to avoid the development of organ damage and reduce morbidity and mortality. Although phlebotomies were tolerated by most patients, oral iron chelators could be a valid option in early‐onset HC. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective

Author

Poli Van Creveldkliniek Medisch, Child Health, Mañú Pereira, María Del Mar, Colombatti, Raffaella, Alvarez, Federico, Bartolucci, Pablo, Bento, Celeste, Brunetta, Angelo Loris, Cela, Elena, Christou, Soteroula, Collado, Anna, de Montalembert, Mariane, Dedeken, Laurence, Fenaux, Pierre, Galacteros, Frédéric, Glenthøj, Andreas, Gutiérrez Valle, Victoria, Kattamis, Antonis, Kunz, Joachim, Lobitz, Stephan, McMahon, Corrina, Pellegrini, Mariangela, Reidel, Sara, Russo, Giovanna, Santos Freire, Miriam, van Beers, Eduard, Kountouris, Petros, Gulbis, Béatrice, Poli Van Creveldkliniek Medisch, Child Health, Mañú Pereira, María Del Mar, Colombatti, Raffaella, Alvarez, Federico, Bartolucci, Pablo, Bento, Celeste, Brunetta, Angelo Loris, Cela, Elena, Christou, Soteroula, Collado, Anna, de Montalembert, Mariane, Dedeken, Laurence, Fenaux, Pierre, Galacteros, Frédéric, Glenthøj, Andreas, Gutiérrez Valle, Victoria, Kattamis, Antonis, Kunz, Joachim, Lobitz, Stephan, McMahon, Corrina, Pellegrini, Mariangela, Reidel, Sara, Russo, Giovanna, Santos Freire, Miriam, van Beers, Eduard, Kountouris, Petros, and Gulbis, Béatrice

Published
2023

37. Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet

Author

Poli Van Creveldkliniek Medisch, Child Health, Collado, Anna, Boaro, Maria Paola, Van Der Veen, Sigrid, Idrizovic, Amira, Biemond, Bart J., Beneitez Pastor, David, Ortuño, Ana, Cela, Elena, Ruiz-Llobet, Anna, Bartolucci, Pablo, De Montalembert, Marianne, Castellani, Gastone, Biondi, Riccardo, Manara, Renzo, Sanavia, Tiziana, Fariselli, Piero, Kountouris, Petros, Kleanthous, Marina, Alvarez, Federico, Zazo, Santiago, Colombatti, Raffaella, Van Beers, Eduard J., Mañú-Pereira, María Del Mar, Poli Van Creveldkliniek Medisch, Child Health, Collado, Anna, Boaro, Maria Paola, Van Der Veen, Sigrid, Idrizovic, Amira, Biemond, Bart J., Beneitez Pastor, David, Ortuño, Ana, Cela, Elena, Ruiz-Llobet, Anna, Bartolucci, Pablo, De Montalembert, Marianne, Castellani, Gastone, Biondi, Riccardo, Manara, Renzo, Sanavia, Tiziana, Fariselli, Piero, Kountouris, Petros, Kleanthous, Marina, Alvarez, Federico, Zazo, Santiago, Colombatti, Raffaella, Van Beers, Eduard J., and Mañú-Pereira, María Del Mar

Published
2023

39. Current challenges in the management of patients with sickle cell disease – A report of the Italian experience

Author

Russo, Giovanna, De Franceschi, Lucia, Colombatti, Raffaella, Rigano, Paolo, Perrotta, Silverio, Voi, Vincenzo, Palazzi, Giovanni, Fidone, Carmelo, Quota, Alessandra, Graziadei, Giovanna, Pietrangelo, Antonello, Pinto, Valeria, Ruffo, Giovan Battista, Sorrentino, Francesco, Venturelli, Donatella, Casale, Maddalena, Ferrara, Francesca, Sainati, Laura, Cappellini, Maria Domenica, Piga, Antonio, Maggio, Aurelio, and Forni, Gian Luca

Published
2019
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40. Relationship between hemoglobin, hemolysis, and transcranial Doppler velocities in children with sickle cell disease: Results from a long‐term natural history study in Italy in the era of multimodal therapy.

Author

Reggiani, Giulia, Coppadoro, Beatrice, Munaretto, Vania, Pieroni, Alessio, Viaro, Federica, Manara, Renzo, Beaubrun, Anne, Biffi, Alessandra, Baracchini, Claudio, Sainati, Laura, and Colombatti, Raffaella

Subjects
SICKLE cell anemia, COMBINED modality therapy, HEMOLYSIS & hemolysins, RED blood cell transfusion, ITALIAN history, PAROXYSMAL hemoglobinuria, SICKLE cell trait
Abstract

Background: Stroke and cerebral vasculopathy are leading causes of morbidity and mortality in patients with sickle cell disease (SCD). Transcranial Doppler (TCD) is a reliable and validated predictor of stroke risk. Children with conditional or abnormal TCD are at an increased risk for stroke, which can be mitigated by red blood cell transfusion or hydroxyurea. Elucidating the relationship between cerebral hemodynamics and hemolytic anemia can help identify novel therapeutic approaches to reduce stroke risk and transfusion dependence. Methods: This long‐term, real‐world study was designed to evaluate the prevalence of TCD imaging (TCDi)‐assessed flow velocities in children and to interrogate their relationship with markers of anemia and hemolysis. Results: In total, 155 children (median follow‐up 79.8 months, 1358.44 patient‐years) had 583 evaluable TCDi results. Only patients with HbSS or HbSβ0 had abnormal (1.6%) or conditional (10.9%) TCDi. Children with abnormal or conditional TCDi had lower hemoglobin (Hb) and higher hemolysis markers. A linear correlation was detected between TCD velocity and Hb: an Hb increase of 1 g/dL corresponded to decreases in velocity in the internal carotid and middle cerebral arteries (6.137 cm/s and 7.243 cm/s). Moreover, patients with Hb >9 g/dL presented a lower risk of TCDi‐associated events. Conclusion: These results support the need to optimize disease‐modifying treatments that increase Hb and reduce hemolysis for stroke prevention in young children with SCD. [ABSTRACT FROM AUTHOR]

Published
2023
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41. Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet

Author

Collado, Anna, primary, Boaro, Maria Paola, additional, van der Veen, Sigrid, additional, Idrizovic, Amira, additional, Biemond, Bart J., additional, Beneitez Pastor, David, additional, Ortuño, Ana, additional, Cela, Elena, additional, Ruiz-Llobet, Anna, additional, Bartolucci, Pablo, additional, de Montalembert, Marianne, additional, Castellani, Gastone, additional, Biondi, Riccardo, additional, Manara, Renzo, additional, Sanavia, Tiziana, additional, Fariselli, Piero, additional, Kountouris, Petros, additional, Kleanthous, Marina, additional, Alvarez, Federico, additional, Zazo, Santiago, additional, Colombatti, Raffaella, additional, van Beers, Eduard J., additional, and Mañú-Pereira, María del Mar, additional

Published
2023
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44. The Areal Project: How Virtual Reality Application Could Enhance Patient's Quality Time during Transfusion Therapy in Adult Patients with Thalassemia and Sickle Cell Disease

Author

Megale, Valentino, primary, Casale, Maddalena, additional, Colombatti, Raffaella, additional, Pinto, Valeria, additional, Baido, Ilaria, additional, Brentan, Cristina, additional, Forni, Gian Luca, additional, Forte, Miriam, additional, Gianesin, Barbara, additional, Grieco, Francesca, additional, Maran, Elizabeth, additional, Munaretto, Vania, additional, Perrotta, Silverio, additional, Putti, Maria Caterina, additional, and Robello, Giacomo, additional

Published
2022
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47. Environmental Factors in Northern Italy and Sickle Cell Disease Acute Complications: A Multicentric Study

Author

Guerzoni, Maria Elena, primary, Marchesi, Stefano, additional, Palazzi, Giovanni, additional, Lodi, Mariachiara, additional, Pinelli, Margherita, additional, Venturelli, Donatella, additional, Bigi, Elena, additional, Quaglia, Nadia, additional, Corti, Paola, additional, Serra, Roberta, additional, Colombatti, Raffaella, additional, Sainati, Laura, additional, Masera, Nicoletta, additional, Colombo, Francesca, additional, Barone, Angelica, additional, and Iughetti, Lorenzo, additional

Published
2022
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48. Point‐of‐care testing allows successful simultaneous screening of sickle cell disease, HIV, and tuberculosis for households in rural Guinea‐Bissau, West Africa

Author

Menzato, Federica, primary, Bosa, Luca, additional, Sifna, Armando, additional, Da Silva, Luisa, additional, Gasperoni, Elena, additional, Martella, Maddalena, additional, Mustik, Alfa, additional, Da Dalt, Liviana, additional, Reggiani, Giulia, additional, Munaretto, Vania, additional, Liotta, Giuseppe, additional, Riccardi, Fabio, additional, and Colombatti, Raffaella, additional

Published
2022
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49. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thomas, Sanfilippo, Giuseppina, Lafe, Elvis, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, Sartori, Stefano, Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thoma, Sanfilippo, Giuseppina, Lafe, Elvi, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, and Sartori, Stefano

Subjects
arteriopathy, indirect revascularization, aspirin, moyamoya, cerebrovascular event, transient ischemic attack, Pediatrics, Perinatology and Child Health, cerebrovascular events, headache, stroke, NO
Abstract

BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6–10% of all childhood strokes and transient ischemic attacks (TIAs).MethodsWe conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.ResultsA total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58–13.88%). At last follow-up (median 4 years after diagnosis, range 0.5–15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS (p = 0.021). Onset age p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).ConclusionsMoyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).

Published
2022

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