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Introduction: The objective of this study was to determine the normal anal position index (API) in neonates and in a group of older children with chronic constipation, and to identify the incidence of anterior ectopic anus (AEA) in the two groups.Materials and Methods: A prospective random study was carried out in two European hospitals determining the API in 1,012 neonates (529 in Group A, and 483 in Group B) and in 64 children suffering chronic constipation of ages between 3 months and 12 years (Group C). The API is defined as the ratio between the fourchette-anal and fourchette-coccygeal distances in girls and the scroto-anal and scroto-coccygeal distances in boys. The gestational age, weight, meconium evacuation and anal calibre were recorded in Groups A and B, and age, sex, and API in Group C. Statistical comparisons were made using Student's t test and Welch's t test for independent sample groups.Results: The mean API in Group A was 0.53 ± 0.06 in males and 0.40 ± 0.05 in females, and in Group B 0.51 ± 0.06 in males and 0.39 ± 0.08 in females, with significant differences between the sexes (p < 0.0001) in both groups; 1.7% of the neonates in Group A and 2.4% of Group B presented AEA. 4/13 newborns females with AEA presented with severe constipation during their first months of life. For the 64 patients in Group C: 59.3% were female; the mean API was 0.47 ± 0.1 in males and 0.36 ± 0.1 in females (p < 0.0001). The incidence of AEA was 47% in females and 35% in males.Conclusions: In the neonates (Groups A and B), the position of the anus in the perineum was more anterior in females than in males (p < 0.0001); 31% of the newborns females with AEA presented with constipation in their first months of life. In the Group C patients, there was a high incidence of AEA, especially in the females, and we consider it to be the probable cause of this defecation disorder. [ABSTRACT FROM AUTHOR]

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Aim: Joint damage due to haemarthrosis can be effectively monitored with point-of care ultrasound using the Haemophilia Early Arthropathy Detection with US (HEAD-US) scoring system. A post hoc comparative analysis of the joint status of patients with severe haemophilia A (HA) or B (HB) was performed., Methods: The databases of two observational, cross-sectional studies that recruited patients with HA or HB from 12 Spanish centres were analysed to compare the status of the elbows, knees and ankles in patients with severe disease according to treatment modality. The HEAD-US score was calculated in both studies by the same trained operators., Results: Overall, 95 HA and 41 HB severe patients were included, with a mean age of 35.2 ± 11.8 and 32.7 ± 14.2 years, respectively. The percentage of patients who received prophylaxis, over on-demand (OD) treatment, was much higher in HA (91.6%) than in HB (65.8%) patients. With a similar number of target joints, the HEAD-US score was zero in 6.3% HA and 22.0% HB patients (p < .01), respectively. The HA population showed significantly worse HEAD-US scores. Whilst osteochondral damage occurred more frequently in patients OD or tertiary prophylaxis, our data suggest that articular damage is less prominent in primary/secondary prophylaxis, regardless of the type of haemophilia. These latter treatment modalities were also associated with a lower prevalence of synovial hypertrophy, particularly in HB patients., Conclusion: This post hoc analysis indicates that joint status seems to be significantly influenced by haemophilia type (HA or HB) and treatment modality in these severe Spanish populations with severe disease. Continuing HEAD-US monitoring for the early detection and management of intra-articular abnormalities, as well as more efficiently tailored therapies should be warranted., (© 2024 John Wiley & Sons Ltd.)

Background: Data on acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) from 4 European countries (France, Italy, Germany, and Hungary) were recently published., Objective: To report data from a group of 50 patients with acquired C1-INH deficiency from Spain, of whom 46 had angioedema, and compare them with other European series., Methods: We performed a retrospective observational study of 46 patients with C1-INH-AAE and 4 asymptomatic patients. Clinical and biological characteristics and associated diseases were assessed and compared with other European series., Results: Women accounted for 73.9% of cases. The prevalence of C1-INH-AAE related to hereditary forms was 1/10.1. Overall, 8.7% patients were aged <40 years. Diagnostic delay was 1.1 years. Angioedema mainly affected the face (91.3%), followed by the oropharynx (63%), extremities (50%), and abdomen (37%). Only 1 patient underwent orotracheal intubation. Erythema marginatum was present in 1 patient. A hematologic disorder was recorded in 50% of patients. Angioedema preceded all benign conditions, mostly monoclonal gammopathy of undetermined significance, but appeared very close to or after malignant hematologic diseases (median, 2.2 and 0.29 years). Autoimmune diseases were associated in 50% (autoimmune thyroiditis, 21.5%; systemic lupus erythematosus, 10.9%). Half of them coexisted with hematologic disorders. Anti-C1-INH antibodies were found in 67% of tested patients and were not related to the associated disease. Long-term prophylaxis was necessary in 52.2%, most of whom responded to tranexamic acid., Conclusions: This study emphasizes the possibility of C1-INH-AAE in patients younger than 40 and in autoimmune diseases other than systemic lupus erythematosus such as autoimmune thyroiditis., (Copyright © 2021 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

Objective: To evaluate the efficacy and safety of a plasma-derived factor VIII concentrate containing von Willebrand Factor (pdVWF/FVIII) in standard clinical practice in von Willebrand Disease (VWD) patients., Methods: A retrospective, multicentric, observational study of VWD patients treated with Fanhdi ® , a pdVWF/FVIII concentrate, from January 2011 to December 2017 was conducted at 14 centers in Spain. Efficacy and safety were evaluated for acute bleeding episodes, for prevention of bleeding in surgeries, and for secondary long-term prophylaxis., Results: Seventy-two eligible patients, type 1, 2, 3 VWD (25%/38.9%/36.1%) were treated for spontaneous and traumatic bleeding (140 episodes, n = 41 patients), to prevent surgical bleeding (69 episodes, n = 43 patients); and for secondary long-term prophylaxis (18 programs, n = 13 patients). Replacement therapy with pdVWF/FVIII showed an excellent to good clinical efficacy in 96.7% of the bleeding episodes, 100% during surgical procedures and 100% during prophylaxis. No adverse events (AEs), nor serious AEs related to the product were observed., Conclusions: Fanhdi ® was effective, safe and well tolerated in the management of bleeding episodes, the prevention of bleeding during surgeries, and for secondary long-term prophylaxis in VWD patients.

Aim: The use of musculoskeletal ultrasound (MSK-US) following protocols for haemophilic arthropathy and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score can help standardize monitoring in haemophilia. This study evaluated the joint status (elbows, knees and ankles) of patients with haemophilia B (HB) in Spain using MSK-US and the HEAD-US score., Methods: Haemophilia B patients ≥14 years old were included in this observational, multicentre, cross-sectional study, regardless of their clinical condition, HB severity and treatment received. Two blinded observers were involved in image acquisition and scoring in each centre., Results: Eighty-two patients from 12 centres were enrolled: 27% mild HB, 23% moderate, 50% severe HB. Mean age was 38.9 ± 16.4 years, 60% were treated on demand (OD) and 40% were on prophylaxis. HEAD-US was zero in all joints in 28.6% OD patients and 36.4% on prophylaxis. Mean scores significantly worsened with HB severity, except for the left knee. Patients on primary and secondary prophylaxis had significantly better joint health vs OD patients in all joints, except the right ankle. Among OD patients, those with severe disease presented significantly worse scores in all HEAD-US items related to permanent damage., Conclusion: Joint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD-US system may help to improve joint health by personalizing and adjusting treatment in this population., (© 2018 John Wiley & Sons Ltd.)

A multicentre, cross-sectional epidemiological survey was conducted to describe the health status of patients with type 1 Gaucher disease (GD1) in Spain. Patient data were collected retrospectively from clinical records. Therapeutic goals for seven clinical parameters were chosen as primary outcome measures. 108 GD1 patients (mean age 44.8 years; 53% male) were recruited from 28 hospitals. Ninety-five patients (88%) were receiving treatment for GD1. Hemoglobin concentration was the therapeutic goal with the highest level of achievement, being met by 105 of 108 patients (97%), followed by the goals for liver volume (86/98 patients; 88%), spleen volume (67/77 patients; 87%) and platelet count (81/108 patients; 75%). The goal for bone mineral density (BMD) was met by 48 of 75 patients (64%), and the goal for quality of life was met by 65 of 103 patients (63%). Bone pain was the parameter with the lowest level of achievement (goal met by 50/94 patients; 53%). The clinical information most often missing from patient records was the BMD Z-score (missing for 31% of patients). These data suggest that most Spanish GD1 patients have good control over hematological and visceral parameters, but there is a need to improve monitoring and treatment of GD-related bone disease., (Copyright © 2015. Published by Elsevier Inc.)

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.

Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). Such mutations are mostly private, and a high intra- and inter-familial variability exists. In this report, we present a patient with WS4 and a second with PCWH due to SOX10 mutations supporting again the genetic and phenotypic heterogeneity of these syndromes. Interestingly, the WS4 family carries an insertion of 19 nucleotides in exon 5 of SOX10, which results in distinct phenotypes along three different generations: hypopigmentation in the maternal grandmother, hearing loss in the mother, and WS4 in the proband. Since mosaicism cannot explain the three different related-WS features observed in this family, we propose as the most plausible explanation the existence of additional molecular events, acting in an additive or multiplicative fashion, in genes or regulatory regions unidentified so far. On the other hand, the PCWH case was due to a de novo deletion in exon 5 of the gene. Efforts should be devoted to unravel the mechanisms underlying the intrafamilial phenotypic variability observed in the families affected, and to identify new genes responsible for the still unsolved WS4 cases., (© 2013 Wiley Periodicals, Inc.)

Although until April 2012, all Spanish citizens regardless of their origin, residence status and work situation were entitled to health care, available evidence suggested inadequate access for immigrants. Following the Aday and Andersen model, we conducted an analysis of policy elements that affect immigrants' access to health care in Spain, based on documentary analysis of national policies and selected regional policies related to migrant health care. Selected documents were (a) laws and plans in force at the time containing migrant health policies and (b) evaluations. The analysis included policy principles, objectives, strategies and evaluations. Results show that the national and regional policies analyzed are based on the principle that health care is a right granted to immigrants by law. These policies include strategies to facilitate access to health care, reducing barriers for entry to the system, for example simplifying requirements and raising awareness, but mostly they address the necessary qualities for services to be able to attend to a more diverse population, such as the adaptation of resources and programs, or improved communication and training. However, limited planning was identified in terms of their implementation, necessary resources and evaluation. In conclusion, the policies address relevant barriers of access for migrants and signal improvements in the health system's responsiveness, but reinforcement is required in order for them to be effectively implemented., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

We performed molecular analysis of the factor 8 gene (F8) in 272 unrelated Spanish patients with haemophilia A (HA) and detected a mutation by routine analysis in 267 of them (98.1%). No mutation was detected in the remaining five patients despite clinical and laboratory confirmation of HA. The aim is to describe the molecular alterations in F8 discovered by gene dosage methodologies in three of these patients. For methodology, F8 sequencing, intragenic marker analysis, multiplex ligation-dependent probe amplification and quantitative real time-PCR were followed. One patient had Klinefelter syndrome (47,XXY) and a large deletion spanning exons 1-12 masked by the other F8 allele; the second patient showed a large duplication spanning exons 2-10 and the third patient revealed a non-contiguous double duplication of exons 14 and 23-25. The remaining two patients had mild HA and dosage results were normal. The application of gene dosage methods is useful to define haemophilic patients in whom mutations are not detected using other routine methods. Nevertheless, in a small percentage of patients (<1%), no molecular pathology can be identified after testing several genetic methodologies., (© 2012 Blackwell Publishing Ltd.)

Objectives: To analyse health personnel perceptions regarding the provision of care to immigrant population., Methods: An exploratory and descriptive qualitative study was carried out by means of semi-structured individual interviews and focus groups to a theoretical sample of informants: Healthcare managers (19) and health professionals (46) from primary and secondary care. Narrative content analysis was conducted, segmented by informants' groups and themes. The area of study was five regions (comarcas) of Catalonia (Spain)., Results: Having to provide healthcare to immigrants generates feelings of distress, overload and exhaustion in health professionals, particularly in primary care personnel. However, problems faced in providing care were identified both by professionals and managers. Communication barriers emerged as the main problem. Other problems were attributed to specific characteristics of immigrants, their inappropriate use of services and professionals' attitudes. Structural and organizational deficiencies of the health system also emerged., Conclusions: For health professionals in Catalonia to provide care of quality to immigrants, interventions that reduce communication barriers and improve their cultural competences are requested. In addition, structural changes are needed to adapt the Catalonian health care system to the new circumstances.

Objectives: The study aimed at providing a comparative analysis of health policies for immigrant populations in three European countries., Methods: A descriptive comparative study of health policies for immigrant population was conducted through content analysis. England, Italy and Spain were selected because they have similar national health systems and different histories of immigration. For each country national or regional plans that included health policies for immigrants or ethnic minorities were selected. The analysis was conducted along the following dimensions: policy objectives, strategies, and evaluation of results. Subsequently, strategies were categorized according to the field of action., Results: Improvements in immigrants' health are the ultimate objectives of these policies but they differ in emphasis and strategies. Main strategies relate to: addressing specific health issues; access to healthcare - information, communication, service supply and administrative proceedings; and improving quality of healthcare provision - services adaptation, professionals training and health needs' analysis. Only in England are some results of policy evaluation available., Conclusions: Different models of immigrant integration in receiving countries seem to condition the health policy approach. England and Spain propose actions to address immigrants' healthcare needs, while in Italy the development of specific strategies is limited., (Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.)

Objectives: To analyse the factors that influence access to health services from the point of view of the Ecuadorian population living in Barcelona., Methods: A qualitative, descriptive and phenomenological study was carried out by semi-structured individual interviews on a sample of Ecuadorians (18) with maximum variation in age, sex, time since arrival and administrative status. The analysis was conducted according to Colaizzi's method. The study area was Barcelona., Results: Access was considered to be easy for personal health-care card (PHC) holders. However, interviewees identified few factors that facilitated access related to the Ecuadorian population (PHC holder, language, social networks) and the health system (free care, opening hours). In contrast, a number of hindering factors related to both the Ecuadorian population (insufficient knowledge of the system, problems with the documentation in obtaining the PHC, working conditions) and to the system itself (information availability, resources, organisation, attitude of staff) were also identified., Conclusions: Although access was perceived as easy, the Ecuadorian population has to overcome a number of barriers to obtain care. These obstacles may have consequences on immigrants' health and on the efficiency of the system.

Objectives: To analyze the content of health policies for the immigrant population developed by central and regional governments in Spain., Methods: A descriptive comparative study of central and regional healthcare policies for the immigrant population was conducted in Spain through content analysis. The selected regions were Andalusia, Valencia, Madrid and the Basque Country as these regions have specific policies, distinct proportions of immigrants and policy evaluations. National or regional health and immigration plans with health policies for immigrants were selected. Contents analysis was conducted of the following main dimensions: policy principles and objectives, strategies and results' evaluation. Subsequently, strategies were categorized according to the area of intervention., Results: Healthcare policies for the immigrant population are mainly included in national and regional immigration plans. The principles of these policies are based on equal rights to healthcare between the immigrant and native-born populations and the objectives aim to achieve this end. National objectives and actions address access to and adaptation of health services, health promotion, health needs assessment, and health personnel training in cultural competences. Regional policies follow the national guidelines but their actions are more specific. Policy evaluations are highly limited., Conclusions: The content of the health policies, especially national policies, address major issues in meeting immigrants' healthcare needs. However, the absence of assessments, together with persistent problems in the provision of care and inequalities in access, could indicate insufficient implementation and requires careful monitoring., (Copyright (c) 2009 SESPAS. Published by Elsevier Espana. All rights reserved.)

Objective: To analyze the needs perceived by health personnel in the provision of healthcare to the immigrant population and to provide suggestions for improvement., Methods: A descriptive, exploratory and phenomenological qualitative study was carried out by means of semi-structured individual interviews and focus groups to a criterion sample of informants: healthcare managers (n=21) and health professionals (n=44) from primary and specialized care. A narrative content analysis was conducted by three analysts, segmented by groups of informants and themes, with mixed generation of categories., Results: The need for support in providing healthcare to the immigrant population strongly emerged in the informants' discourses, with some discrepant voices. On the one hand, translated materials, translation services, and a greater length of time allocated per patient, were required to address communication and information barriers. On the other hand, specific training focusing on cultural aspects and practical tools for immediate implementation were needed to provide adequate care to patients from diverse cultural backgrounds. In addition, changes in the healthcare system, led by the Health Department, were requested to adapt resources to the new situation., Conclusion: The needs identified for support in communication, information and training, as well as changes in the system, reveal the insufficient implementation of the interventions contemplated in the Immigration and Health Plan. In addition, structural and organizational deficiencies were identified that should be addressed by general policies.

Objective: To evaluate the impact of the catalan pilot project of capitation payment on healthcare coordination from a qualitative perspective., Methods: An exploratory, descriptive, qualitative study was carried out by means of document analysis and individual interviews. A criterion sample of documents and of informants was selected: purchasers (9) and providers (26) managers, and health professionals (16). A content analysis was conducted, with mixed generation of categories and data segmentation by informants' groups, themes, and areas. The study area consisted of the 5 pilot zones., Results: According to the informants, the pilot test facilitated a shared vision of the area and improved communication among providers. Nevertheless, changes introduced as a consequence of the project to improve healthcare coordination were scarce. A virtual alliance among providers with shared objectives and structural changes was found in just one area. Healthcare coordination mechanisms were exchanged, with variable use. Perceived barriers to change were uncertainty, providers' fears of losing their identity, lack of interest, and the management limits of some providers., Conclusions: The designed and implemented capitation payment system failed to generate enough incentives to stimulate changes in healthcare coordination. The weaknesses identified by this evaluation should be resolved before extending the pilot project to the rest of Catalonia.

To promote the mobility of nursing professionals among the countries members of the European Union may be an efficient measure to alleviate the shortage of nurses. An important limitation for this mobility consists in the lack of knowledge about the different cultures and with regards to the competencies, formation and nursing practices which exist in these distinct countries. At the present time, there is no method or instrument available which permits a comparison. The EHTAN, the European Healthcare Teaching and Accreditation Network, project proposes a methodology to evaluate and self-evaluate competencies by means of a tool, a competency matrix, developed for this purpose. In this article, the authors introduce the work carried out during the first phases of this project.

There has been a tendency recently to abandon competition and to introduce policies that promote collaboration between health providers as a means of improving the efficiency of the system and the continuity of care. A number of countries, most notably the United States, have experienced the integration of health care providers to cover the continuum of care of a defined population. Catalonia has witnessed the steady emergence of increasing numbers of integrated health organisations (IHO) but, unlike the United States, studies on health providers' integration are scarce. As part of a research project currently underway, a guide was developed to study Catalan IHOs, based on a classical literature review and the development of a theoretical framework. The guide proposes analysing the IHO's performance in relation to their final objectives of improving the efficiency and continuity of health care by an analysis of the integration type (based on key characteristics); external elements (existence of other suppliers, type of services' payment mechanisms); and internal elements (model of government, organization and management) that influence integration. Evaluation of the IHO's performance focuses on global strategies and results on coordination of care and efficiency. Two types of coordination are evaluated: information coordination and coordination of care management. Evaluation of the efficiency of the IHO refers to technical and allocative efficiency. This guide may have to be modified for use in the Catalan context.

Background and Objective: Secondary myelodysplastic syndromes (sMDS) and secondary acute myeloid leukemias (sAML) have been observed after conventional chemo/radiotherapy and autologous hematopoietic stem cell transplantation. The aim of the present study was to analyze Spanish experience regarding the incidence and characteristics of sMDS and sAML following autologous transplantation., Design and Methods: We obtained information from 7 institutions which perform autologous transplantation in Spain. Data from 1,081 and 1,411 patients who had received allogeneic and autologous transplantation, respectively, were available., Results: None of the allografted patients had developed a sMDS/sAML so far. Thirteen cases of sMDS/sAML following autologous transplantation were reported. The mean age of these 13 patients at the time of transplantation was 40 years (range 16-58). Five had non-Hodgkin's lymphoma, 6 had Hodgkin's disease, 1 had acute myeloblastic leukemia and 1 had multiple myeloma. The crude overall incidence of sMDS/sAML was 0.9%. The incidence did not differ according to the source of progenitor cells (1% and 0.8% for bone marrow and peripheral blood, respectively). Cytogenetic analysis showed clonal abnormalities in 11 of the 13 cases. Patients with sMDS/sAML had received more doses of alkylating agents than non-sMDS patients (p = 0.0015). The median time between transplantation and diagnosis of sMDS/sAML was 28 months (range 1.5-63). This time was significantly longer for patients who received bone marrow than for those who received peripheral blood (45 versus 18 months, p = 0.01). Median overall survival after diagnosis of sMDS/sAML was 13 months., Interpretation and Conclusions: The crude incidence of sMDS/sAML in our series was similar to other published incidences. We did not find any difference in incidence between patients who had received bone marrow or peripheral blood; however, the medi an time elapsed between transplantation and sMDS diagnosis was shorter when peripheral blood was infused. Higher doses of alkylating agents were associated with the appearance of sMDS/AML.

With the aim of describe a typology that will result in a more precise diagnostic which in turn will permit the selection of the most direct method approach, an analysis was made of the clinical characteristics of patients we treated due to the presence of torsion of the testicular and epididymal appendages. A retrospective review was made of 91 patients, taking into account this age, time of appearance, time of evolution, symptoms, physical examination, histological study and effects. The average age was 9.47 years with a greater incidence occurring between the eight and twelve years old. No influence due to a seasonal phase was detected. The time span between the initial appearance of the symptoms and the time of admittance was 39.5 hours, being somewhat less in patients below the age of six. The common symptom was pain. In addition, 58.2% of the patients also suffered scrotal affectation. In 31 patients the hydatid was palpable and in 19 the "blue dot sign" rendered positive. In 83 cases, surgery was done via the scrotum, resulting in the confirmation of the initial diagnosis. The affectation of the left side was more frequent (62.5%). The hospital discharge was possible in less than 48 hours with no visible long-term effects. Thus, we believe that it is possible to almost always make a diagnosis based on the clinical data, and the type of treatment to be applied should be the extirpation of the hydatid to be carried out via the scrotum.