Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR).

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments.

Influence of non-osteoporotic treatments in patients on active anti-osteoporotic therapy: evidence from the OSTEOMED registry.

PURPOSE: To evaluate the effect of different non-osteoporotic drugs on the increase or decrease in the risk of incident fragility fractures (vertebral, humerus or hip) in a cohort of patients diagnosed with osteoporosis on active anti-osteoporotic therapy. METHODS: For this retrospective longitudinal study, baseline and follow-up data on prescribed non-osteoporotic treatments and the occurrence of vertebral, humerus or hip fractures in 993 patients from the OSTEOMED registry were analyzed using logistic regression models. The drugs evaluated with a possible beneficial effect were thiazides and statins, while the drugs evaluated with a possible harmful effect were antiandrogens, aromatase inhibitors, proton pump inhibitors, selective serotonin reuptake inhibitors, benzodiazepines, GnRH agonists, thyroid hormones, and oral and inhaled corticosteroids. RESULTS: Logistic regression analyses indicated that no treatment significantly improved fracture risk, with the only treatments that significantly worsened fracture risk being letrozole (OR = 0.18, p-value = 0.03) and oral corticosteroids at doses ≤ 5 mg/day (OR = 0.16, p-value = 0.03) and > 5 mg/day (OR = 0.27, p-value = 0.04). CONCLUSION: The potential beneficial or detrimental effects of the different drugs evaluated on fracture risk are masked by treatment with anabolic or antiresorptive drugs that have a more potent action on bone metabolism, with two exceptions: letrozole and oral corticosteroids. These findings may have important clinical implications, as patients receiving these treatments are not fully protected by bisphosphonates, which may imply the need for more potent anti-osteoporotic drugs such as denosumab or teriparatide.

Comorbidity and osteoporotic fracture: approach through predictive modeling techniques using the OSTEOMED registry.

PURPOSE: To examine the response to anti-osteoporotic treatment, considered as incident fragility fractures after a minimum follow-up of 1 year, according to sex, age, and number of comorbidities of the patients. METHODS: For this retrospective observational study, data from baseline and follow-up visits on the number of comorbidities, prescribed anti-osteoporotic treatment and vertebral, humerus or hip fractures in 993 patients from the OSTEOMED registry were analyzed using logistic regression and an artificial network model. RESULTS: Logistic regression showed that the probability of reducing fractures for each anti-osteoporotic treatment considered was independent of sex, age, and the number of comorbidities, increasing significantly only in males taking vitamin D (OR = 7.918), patients without comorbidities taking vitamin D (OR = 4.197) and patients with ≥ 3 comorbidities taking calcium (OR = 9.412). Logistic regression correctly classified 96% of patients (Hosmer-Lemeshow = 0.492) compared with the artificial neural network model, which correctly classified 95% of patients (AUC = 0.6). CONCLUSION: In general, sex, age and the number of comorbidities did not influence the likelihood that a given anti-osteoporotic treatment improved the risk of incident fragility fractures after 1 year, but this appeared to increase when patients had been treated with risedronate, strontium or teriparatide. The two models used classified patients similarly, but predicted differently in terms of the probability of improvement, with logistic regression being the better fit.

Endovascular Treatment of Spleno-Mesenteric-Portal Vein Thrombosis During Orthotopic Liver Transplant: 20 Years Later.

PURPOSE: Our purpose is to present our experience in endovascular treatment of portal vein thrombosis (PVT) during orthotopic liver transplant (OLT), initial stages, and long-term follow-up. MATERIALS AND METHODS: Between May 1994 and December 2019 we performed 1246 OLTs. A total of 170 (13.64%) had some grade of PVT at the time of OLT. Since May 2000 we have performed endovascular procedures during OLT in 52 patients with PVT grade III to IV Yerdel classification. Our research consists of the 49 patients with more than 1 year of follow-up. The initial surgical technique was eversion thromboendovenectomy when the portal flow was not adequate. Intraoperative portography and endovascular treatments were taken via the graft umbilical vein, one of the recipients' mesenteric veins, the recipient portal vein, or the graft portal vein. If the cause was an obstructive or incomplete thrombus removal, venoplasty and primary stent placement were performed. RESULTS: Primary stent placement was achieved in 47 of 49 patients (95.9%): adequate portal perfusion in the allograf and portal hypertension were achieved. None of the patients died during surgery or at 30 days. At long-term follow-up, 3 patients (6.1%) had a portal vein rethrombosis due to no related causes. Cumulative survival rates were 89.7%, 79.3%, and 65.5% at 1, 5, and 10 years. CONCLUSIONS: Stent placement in PVT during OLT is a safe and effective procedure to resolve liver graft perfusion. It is an anatomic and physiological derivation that guarantees appropriate hepatopetal portal flow to avoid rethrombosis and portal hypertension, with low mortality and morbility.

Results in liver transplantation using grafts from donors after controlled circulatory death: A single-center experience comparing donor grafts harvested after controlled circulatory death to those harvested after brain death.

BACKGROUND: In recent years, interest in donation after cardiac death (DCD) has increased. Although DCD liver transplantation (LT) has demonstrated satisfactory long-term outcomes, different studies have shown poorer patient and graft survival after DCD than after donation after brain death (DBD). This study aimed to evaluate the results of LT using controlled DCD (cDCD) donors, specifically the incidence of primary non-function and ischemic cholangiopathy (IC), and to compare these results with those of LT using DBD in the same time period. METHODS: Between June 2012 and July 2018, we performed 66 transplants using cDCD and 258 with DBD grafts. RESULTS: The incidence of IC was similar in both groups (2% in DBD, 1.5% in DCD; P = .999). No significant differences were found for overall graft and patient survival rates between the groups at 1 and 2 years post-transplantation. CONCLUSIONS: This study provided evidence that cDCD donors exhibit excellent graft and patient survival outcomes. When the warm ischemia time is <30 minutes and cold ischemia time is <6 hours, the graft and patient survival rates and the incidence of IC in DCD are similar to those in DBD, even when using donors without age restrictions.

Situación de la preservación de fertilidad en pacientes con cáncer en nuestro medio: grado de conocimiento, información e implicación de los profesionales / Current situation on fertility preservation in cancer patients in Spain: Level of knowledge, information, and professional involvement

Introducción: Los riesgos de infertilidad en cáncer infantil, en función de la radioterapia, quimioterapia y/o cirugía son bien conocidos. La implicación de los profesionales y los avances en los métodos de preservación son cada vez mayores. Sin embargo, muchos pacientes no reciben información ni realizan ningún método de preservación. Material: Se realiza una encuesta nacional de 22 preguntas a especialistas en hematología y/o oncología infantil para valorar sus conocimientos, la posibilidad de realizar preservación en sus centros y la práctica habitual. Resultados: Respondieron 50 miembros de la Sociedad Española de Hematología y Oncología Pediátrica, que representan 24 de 43 centros. Están representados el 82% de los centros que tratan un mayor número de pacientes. El 78% de los encuestados refiere conocer los efectos sobre la fertilidad de los tratamientos. El 76% admite no conocer ninguna guía sobre fertilidad en niños y adolescentes. En cuanto al momento para informar al paciente y/o su familia solo un 14% opina que debe hacerse en la entrevista del diagnóstico del cáncer. En su práctica clínica el 12% de los encuestados nunca deriva pacientes a las unidades de reproducción humana. Otro 12% solo lo hace si los afectados demuestran interés. El 38% deriva solo a pacientes púberes. El 34% remite a aquellos que vayan a recibir tratamiento altamente gonadotóxico. Conclusiones: Un gran porcentaje de especialistas manifiestan su falta de conocimientos y el valor de guías clínicas al respecto. Existen claras diferencias en preservación entre pacientes púberes y prepúberes. La frecuencia de preservación es baja (AU)

Introduction: The estimated risks of infertility in childhood cancer due to radiation, chemotherapy and surgery are well known. The involvement of professionals and advances in the different methods of preservation are increasing. However, many patients do not receive information or perform any method of preservation. Material: Questionnaires to paediatric onco-haematology institutions throughout Spain. The questionnaire consisted of 22 questions assessing their usual practices and knowledge about fertility preservation. Results: Fifty members of the Spanish Society of Paediatric Haematology and Oncology, representing 24 of 43 centres, responded. These represented 82% of centres that treated higher numbers of patients. The effect of treatment on fertility was known by 78% of those who responded, with 76% admitting not knowing any guideline on fertility in children or adolescents. As for the ideal time and place to inform the patient and/or family, only 14% thought it should be done in the same cancer diagnosis interview. In clinical practice, 12% of those surveyed never referred patients to Human Reproduction Units, another 12% only did so if the patients showed interest, and 38% only refer patients in puberty. Just over one-third (34%) of those referrals were going to receive highly gonadotoxic treatment. Conclusions: There are clear differences between pre-puberty and puberty patients. The frequency with which some method of fertility preservation is performed in patients is low. All respondents believe that the existence of national guidelines on the matter would be of interest (AU)

[Current situation on fertility preservation in cancer patients in Spain: Level of knowledge, information, and professional involvement]. / Situación de la preservación de fertilidad en pacientes con cáncer en nuestro medio: grado de conocimiento, información e implicación de los profesionales.

INTRODUCTION: The estimated risks of infertility in childhood cancer due to radiation, chemotherapy and surgery are well known. The involvement of professionals and advances in the different methods of preservation are increasing. However, many patients do not receive information or perform any method of preservation. MATERIAL: Questionnaires to paediatric onco-haematology institutions throughout Spain. The questionnaire consisted of 22 questions assessing their usual practices and knowledge about fertility preservation. RESULTS: Fifty members of the Spanish Society of Paediatric Haematology and Oncology, representing 24 of 43 centres, responded. These represented 82% of centres that treated higher numbers of patients. The effect of treatment on fertility was known by 78% of those who responded, with 76% admitting not knowing any guideline on fertility in children or adolescents. As for the ideal time and place to inform the patient and/or family, only 14% thought it should be done in the same cancer diagnosis interview. In clinical practice, 12% of those surveyed never referred patients to Human Reproduction Units, another 12% only did so if the patients showed interest, and 38% only refer patients in puberty. Just over one-third (34%) of those referrals were going to receive highly gonadotoxic treatment. CONCLUSIONS: There are clear differences between pre-puberty and puberty patients. The frequency with which some method of fertility preservation is performed in patients is low. All respondents believe that the existence of national guidelines on the matter would be of interest.

Vertebral fractures in patients with inflammatory bowel disease compared with a healthy population: a prospective case-control study.

BACKGROUND: A prospective study was performed to compare the prevalence of morphometric vertebral fractures (MVF) between patients with inflammatory bowel disease (IBD) and healthy subjects and to identify predictive factors of fracture. METHODS: A total of 107 patients with IBD (53 with Crohn's disease and 54 with ulcerative colitis) and 51 healthy subjects participated in the study. Information about anthropometric parameters, toxins, previous fractures, and parameters related to this disease were evaluated. The index of vertebral deformity, bone mass density (BMD), and biochemical parameters were calculated. RESULTS: A total of 72 fractures were detected in 38.32% of patients with IBD, and 10 fractures were detected in 13.73% of healthy subjects; the risk of fracture in patients with IBD was higher than that in control subjects (OR, 4.03; 95% CI, 1.652-9.847; p < 0.002). We found no correlation between fracture and BMD in patients with IBD (lumbar spine, r = -0.103, p = 0.17 and femoral neck, r = -0.138, p = 0.07). Corticosteroid treatment was not associated with prevalent vertebral fractures nor with taking corticosteroids (r = 0.135, p = 0.14) or the duration for which they were taken (r = 0.08, p = 0.38), whereas this relationship was present in the controls (r = -0.365, p = 0.01). In the multivariate analysis, none of the measured parameters were significantly predictive of fracture, only to manifested IBD. Hypovitaminosis D was observed in 55.14% of patients with IBD. CONCLUSIONS: The prevalence of morphometric vertebral fractures is higher in patients with IBD than in the healthy population, without association with BMD or corticoid treatment. Simply having IBD was proven to be a predictive factor of fracture. We observed a high incidence of hypovitaminosis D in patients with IBD.