Ramiro Núñez

Hospital Universitario Virgen del Rocío

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Víctor Jiménez‐Yuste

Hospital Universitario La Paz

María Román

Hospital Universitario La Paz

Santiago Bonanad

Hospital Universitari i Politècnic La Fe

María Eva Mingot‐Castellano

Instituto de Biomedicina de Sevilla

Olga Benítez

Vall d'Hebron Hospital Universitari

Manuel Rodríguez-López

University Hospital Complex Of Vigo

Ottavio Alfieri

Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele

J Widimský

Charles University

Ricardo P.J. Budde

Erasmus MC

Marios Ioannides

Nicosia General Hospital

Cooperative Institutions

Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant

339

University of Liège

335

Shaheed Rajaei Cardiovascular Medical and Research Center

288

Associazione Nazionale Medici Cardiologi Ospedalieri

269

Institut de Recherche pour le Développement

230

Méditerranée Infection Foundation

227

Maria Cecilia Hospital

219

Erasmus MC

137

University of Leeds

133

Erasmus University Rotterdam

131

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The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.

PubMed (2005)

Olga Fernández-López José-Raúl Garcı́a-Lozano Ramiro Núñez Rosario Pérez‐Garrido Antonio Núñez‐Roldán

The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.

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Citations (38)

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

BioMed Research International (2015)

Raquel M. Fernández Ana Peciña Beatriz Sánchez María Dolores Lozano-Arana Juan Carlos García-Lozano

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.

Preimplantation Genetic Diagnosis

Live birth

10.1155/2015/406096

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Citations (13)

HTA297 Value Contribution of Etranacogene Dezaparvovec for the Treatment of Severe and Moderately Severe Haemophilia B in Spain Through Multicriteria Decision Analysis (MCDA)

Value in Health (2024)

Olga Benítez D.A. García-Diego V. Jiménez-Yuste J A Celaya Juárez Ramiro Núñez

Value (mathematics)

10.1016/j.jval.2024.10.2122

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Citations (0)

Management of Urgent Bleeding in Patients with Hemophilia A: Focus on the Use of Emicizumab

TH Open (2024)

Víctor Jiménez‐Yuste María Román Rubén Berrueco Santiago Bonanad José Manuel Calvo-Villas

Abstract Management of patients with hemophilia A (HA) requires the knowledge and experience of specialized health care professionals. However, these patients may need to be attended in emergencies, outside the referral hospital, where health care professionals do not know about hemophilia and/or new innovative treatments. This study aimed to develop a simple and practical algorithm that could be used in emergency situations by nonspecialized treaters in HA and bleeding with or without factor VIII (FVIII) inhibitors under emicizumab prophylaxis. A group of experts agreed on a simple algorithm, easy to operate, adapted from previous international guidelines, and based on their clinical experience. The proposed algorithm starts with identifying the patient, confirming the diagnosis of HA, prophylaxis with emicizumab, and/or use of other treatments. After stabilizing the patient and stratifying the bleeding risk, the patient is managed according to the presence/absence of FVIII inhibitors. Patients without FVIII inhibitors should receive FVIII concentrate. Dose and follow-up depend on bleeding localization and severity. Patients with FVIII inhibitors should preferably receive recombinant activated factor VII as bypass agent. A basic coagulation assay, FVIII assessment, and FVIII inhibitors detection assays are necessary in an emergency. However, these tests should be interpreted with caution and appropriately chosen, as emicizumab may alter the results. The management of patients with HA is challenging in emergency situations, especially if they are treated with new agents. Nonspecialized in coagulopathies health care professionals have limited understanding of the disease, highlighting the need for an algorithm to assist them in making informed decisions.

Health Professionals

10.1055/s-0044-1785525

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Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease

QJM (2016)

Miguel Ángel Torralba Susana Olivera Juan Carlos Bureo J. Dalmau Ramiro Núñez

Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited.We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A > C (T134P), 1%; c.721G > A (G202R), 17%; c.1090G > T (G325W), 13.9%; c.1208G > A (S364N), 4.1%; c.1226A > G (N370S), 17.8%; c.1246G > A (G377S), 17.6%; c.1289C > T (P391L), 8.5%; c.1448T > C (L444P), 3%; and c.1504C > T (R463C), 24.5%. Recombinant alleles, deletion of 55 bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity.The ERA showed a statistically significant correlation with chitotriosidase (P < 0.001), age (P < 0.001), spleen size (P < 0.001), 'Zimran's Severity Score Index' (P < 0.01) and the 'Gaucher Disease Severity Score Index-Type I' (P < 0.0001) at diagnosis of the disorder. Previous to any medical intervention, a comparison between the ERA and bone involvement, demonstrated a statistically significant relationship (P < 0.01) between the two variables.This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the corresponding ERA.

Gaucher's disease

10.1093/qjmed/hcw002

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Citations (16)

The effect of iclepertin on hematology parameters in phase II trials

Neuroscience Applied (2024)

Fredrik Gruenenfelder P. Nagy Earl Fu Ramiro Núñez Bertis English

Hematology

10.1016/j.nsa.2024.105402

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Citations (0)

Correction to: Surgery and outcome of infective endocarditis in octogenarians: prospective data from the ESC EORP EURO-ENDO registry

Infection (2022)

Michal Pazderník Bernard Iung Bülent Mutlu François Alla Robert K. Riezebos

Infective Endocarditis

10.1007/s15010-022-01883-y

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Citations (0)

Spanish consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria

Medicina Clínica (English Edition) (2016)

Ana Villegas Beatriz Arrizabalaga Santiago Bonanad Enrique Colado Anna Gayà

Statement (logic)

10.1016/j.medcle.2016.05.008

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Citations (11)

Protocol for Oral Implant Rehabilitation in a Hemophilic HIV-Positive Patient With Type C Hepatitis

Implant Dentistry (2014)

L. Castellanos‐Cosano Ramiro Núñez Juan J. Segura‐Egea Daniel Torres‐Lagares José-Ramón Corcuera-Flores

Case report: A 46-year-old man with severe hemophilia A, stage A2 HIV infection and chronic hepatitis C genotype 1A, for whom the treatment plan included implant-supported prostheses in 2 mandibular edentulous sections. The protocol followed included factor VIII replacement concentrate and oral antifibrinolytic therapy. The right mandibular section was fitted with 3 Straumann implants (Ø 4.1 mm, length 10 mm), and the left mandibular section received 2 implants of the same characteristics. The patient showed no postoperative complications. After implant placement, the patient attended scheduled review appointments. After a 3-month period of osseointegration, the prosthesis was fitted. Conclusions: Although, in this case, the treatment proved successful 2 years postrehabilitation and the protocol used seems safe and effective, long-term prospective studies are needed to evaluate the implant success rate in these patients.

10.1097/id.0000000000000145

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Citations (12)

The factor VIII treatment history of non‐severe hemophilia A: COMMENT. Joint damage in adult patients with mild or moderate hemophilia A evaluated with the HEAD‐US system

Journal of Thrombosis and Haemostasis (2021)

María Román Hortensia de la Corte Rodríguez Santiago Bonanad María Eva Mingot‐Castellano Nuria Fernández Mosteirín

Factor IX

10.1111/jth.15475

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Citations (8)