3 results on '"Dieli-Crimi, Romina"'
Search Results
2. A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis
- Author
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Espino-Paisán, Laura, Agudo-Jiménez, Teresa, Rosales-Martínez, Isabel, López-Cotarelo, Pilar, García-Martínez, María Ángel, Domínguez-Mozo, María Inmaculada, Pérez-Pérez, Silvia, Dieli-Crimi, Romina, Comabella, Manuel, Urcelay, Elena, Álvarez-Lafuente, Roberto, and Universitat Autònoma de Barcelona
- Subjects
Male ,sex differences ,0301 basic medicine ,Epstein-Barr Virus Infections ,Herpesvirus 4, Human ,Herpesvirus 6, Human ,multiple sclerosis ,Serology ,0302 clinical medicine ,Recurrence ,Genotype ,Immunology and Allergy ,Relapse ,Original Research ,relapse ,education.field_of_study ,biology ,Prognosis ,Female ,genetic marker ,Adult ,lcsh:Immunologic diseases. Allergy ,Immunology ,Population ,Roseolovirus Infections ,SNP ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Multiple sclerosis ,HHV-6 ,Young Adult ,03 medical and health sciences ,Multiple Sclerosis, Relapsing-Remitting ,Sex Factors ,Sex differences ,medicine ,Humans ,education ,Genetic marker ,Retrospective Studies ,business.industry ,myelin basic protein ,medicine.disease ,Myelin basic protein ,030104 developmental biology ,Spain ,biology.protein ,lcsh:RC581-607 ,business ,Follow-Up Studies ,030215 immunology - Abstract
Myelin basic protein (MBP) is thought to be one of the key autoantigens in multiple sclerosis (MS) development. A recent study described the association of the single nucleotide polymorphism (SNP) rs12959006, within the MBP gene, with a higher risk of relapse and worse prognosis. We aim at studying potential associations of this SNP to MS in an independent population. Clinical data of the first 5 years of the disease were collected retrospectively from 291 MS confirmed patients. MBP polymorphism rs12959006 was genotyped in all patients. Associations with EDSS, number of relapses and serology for Herpesvirus 6 (HHV-6) and Epstein Barr (EBV) viruses were studied. Lymphocyte activation measured by CD69 expression was also analyzed according to sex and rs12959006 genotype. The rs12959006 polymorphism contributed significantly to a higher number of relapses at 5 years after onset only in male patients (rs12959006 ∗ TT β = 0.74 [0.36-1.09]; p = 7 × 10 -5). Titers of anti-HHV6 IgG antibodies showed also a mild association with relapses, both in male and female patients (β = 0.01 [0.01-0.02]; p = 3.7 × 10 -8). Both the genetic variation in MBP and HHV-6 infection aid in predicting a higher number of relapses during the first years of MS. The association described in MBP rs12959006 ∗ T is exclusive to male patients
- Published
- 2020
3. Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management
- Author
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Sanchez-Ramon, Silvia, Bermudez, Arancha, Ignacio Gonzalez-Granado, Luis, Rodriguez-Gallego, Carlos, Sastre, Ana, Soler-Palacin, Pere, Alonso, Laura, Allende, Luis, Alsina, Laia, Maria Bielsa, Ana, Calleja-Antolin, Sara, Camara, Carmen, Carbone, Javier, Carreras, Carmen, De Andres Martin, Ana, Deya, Angela, Diaz de Heredia, Cristina, Dieli-Crimi, Romina, Luis Diez, Jose, Dominguez-Pinilla, Nerea, Fernandez-Pereira, Luis, Ma Garcia, Jose, Gil-Herrera, Juana, Gutierrez, Antonio, Jarque, Isidro, Juan, Manel, Lendinez, Francisco, Llobet, Pilar, Lopez, Monica, Lopez de la Guia, Ana, Lopez-Hoyos, Marcos, Martin-Nalda, Andrea, Martinez, Monica, Melero, Josefa, Mendez-Echevarria, Ana, Moral, Pedro, Neth, Olaf, Nunez, Maria, Ocejo-Vinyals, Gonzalo, Ochoa-Grullon, Juliana, Olbrich, Peter, Ona, Raquel, Perez-Encinas, Manuel, Pons, Jaime, Rodriguez, Carmen, Sanchez, Berta, Luis Santos-Perez, Juan, Elena Seoane, Ma, Vlagea, Alexandru, ID Signal Oncohaematology Grp, Institut Català de la Salut, [Sánchez-Ramón S] Hospital Clínico San Carlos, Madrid, Spain. [Bermúdez A] Hospital Universitario Marqués de Valdecilla, Santander, Spain. [González-Granado LI] Hospital Universitario 12 Octubre, Madrid, Spain. [Rodríguez-Gallego C] Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Canary Islands, Spain. [Sastre A] Hospital Universitario La Paz, Madrid, Spain. [Soler-Palacín P] Hospital Universitari Vall d'Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus
- Subjects
0301 basic medicine ,inmunoglobulinas ,calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::factores epidemiológicos::comorbilidad [ATENCIÓN DE SALUD] ,humanos ,immunoglobulins/deficiency ,0302 clinical medicine ,Clinical history ,Other subheadings::/diagnosis [Other subheadings] ,Immunology and Allergy ,Medicine ,Child ,Paediatric patients ,Original Research ,Hematology ,autoimmunity ,Immunoglobulins, Intravenous ,adulto ,enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES] ,Warning signs ,Síndromes de deficiència immunitària - Diagnòstic ,Hematologic Neoplasms ,Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES] ,antibodies/deficiency ,lcsh:Immunologic diseases. Allergy ,Adult ,medicine.medical_specialty ,Sang - Càncer ,síndromes de inmunodeficiencia ,Primary Immunodeficiency Diseases ,Immunology ,Otros calificadores::/diagnóstico [Otros calificadores] ,Lymphoproliferative disorders ,Immunoglobulins ,Primary care ,Secondary immunodeficiency ,03 medical and health sciences ,Comorbiditat ,immunoglobulins/administration and dosage ,Internal medicine ,Humans ,Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Comorbidity [HEALTH CARE] ,neoplasias::neoplasias por localización::neoplasias hematológicas [ENFERMEDADES] ,Intensive care medicine ,Cytopenia ,business.industry ,Immunologic Deficiency Syndromes ,Neoplasms::Neoplasms by Site::Hematologic Neoplasms [DISEASES] ,medicine.disease ,neoplasias hematológicas ,030104 developmental biology ,lcsh:RC581-607 ,business ,030215 immunology - Abstract
Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias or lymphoproliferative syndromes. Early diagnosis and management have significant prognostic implications. Secondary immunodeficiencies (SID) may also be induced by oncohaematological diseases and their treatments. Haematologists and oncologists must therefore be aware of the association between blood disorders and cancer and ID, and be prepared to offer their patients appropriate treatment without delay. Our aim was to define the warning signs of primary and secondary IDs in paediatric and adult patients with oncohaematological manifestations. Methods: A multidisciplinary group of six experts (2 haematologists, 2 immunologists, and 2 paediatricians specializing in ID) conducted a literature review and prepared a document based on agreements reached an in-person meeting. An external group of 44 IDs specialists from all over Spain assessed the document and were consulted regarding their level of agreement. Results: This document identifies the haematological and extra-haematological diseases that should prompt a suspicion of PIDs in adults and children, in both primary care and haematology and oncology departments. Cytopenia and certain lymphoproliferative disorders are key diagnostic pointers. The diagnosis must be based on a detailed clinical history, physical exploration, complete blood count and standard laboratory tests. The immunological and haematological tests included in the diagnostic process will depend on the care level. Patients who are candidates for immunoglobulin replacement therapy must be carefully selected, and treatment should be offered as soon as possible to avoid the development of complications. Finally, this document recommends procedures for monitoring these patients. Conclusions: This document combines scientific evidence with the opinion of a broad panel of experts, and emphasizes the importance of an early diagnosis and treatment to avoid complications. The resulting document is a useful tool for primary care physicians and specialists who see both adult and paediatric patients with oncohaematological diseases., This article received funding fee from CSL Behring.
- Published
- 2019
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