[Translated article] Good humanisation practices in the healthcare of patients with rare diseases in Pharmacy Services.

OBJECTIVE: To analyse the presence of Good Humanisation Practices in the care of patients with rare diseases in Hospital Pharmacy Services and to identify the strengths and prevalent areas for improvement in the humanisation of healthcare. METHODS: An online questionnaire structured in 2 parts was developed using Google Form®. The first one was designed to collect identifying data and the second one included questions related to compliance with the 61 standards of the Manual of Good Humanisation Practices in the healthcare of patients with rare diseases in Hospital Pharmacy Services. Access to the questionnaire was sent by email to the Heads of the Hospital Pharmacy Service of 18 hospitals. The study period was from October 2021 to October 2022. The analysed variables were the number of criteria that were considered met, total compliance (percentage of criteria met), by strategic line and by type or level of standard, globally and grouped by regions of Spain. RESULTS: 18 Hospital Pharmacy Services were included. The overall mean of standards met was 31.1 (95% CI: 24.8-37.6) and mean total compliance was 52.1% (95% CI: 44.4%-59.7%). The mean compliance by strategic line was: Line 1, Humanisation culture: 46.5% (95% CI: 35.3%-57.7%), Line 2, Patient empowerment: 47.4% (95% CI: 37.1%-57.8%), Line 3, Professional care: 49.7% (95% CI: 39.8%-59.1%), Line 4, Physical spaces and comfort: 55.6% (95% CI: 46.3%-64.8%), and Line 5, Organisation of healthcare: 63.8% (95% CI: 55.8%-71.9%). CONCLUSION: The average compliance with the standards is between 40% and 60%, which indicates that humanisation is present in the Hospital Pharmacy Services, but there is a wide margin for improvement. The main strength in the humanisation of Hospital Pharmacy Services is a patient-centred care organisation, and the area with the greatest room for improvement is the culture of humanisation.

Presence of good humanization practices in the healthcare of patients with rare diseases in Pharmacy Services. / Presencia de buenas prácticas de humanización en la atención a los pacientes con enfermedades raras en los servicios de farmacia.

OBJECTIVE: To analyze the presence of Good Humanization Practices in the care of patients with rare diseases in Hospital Pharmacy Services and to identify the strengths and prevalent areas for improvement in the humanization of healthcare. METHODS: Online questionnaire structured in two parts was developed using Google Form®. The first one was designed to collect identifying data and the second one included questions related to compliance with the 61 standards of the Manual of Good Humanization Practices in the healthcare of patients with rare diseases in Hospital Pharmacy Services. Access to the questionnaire was sent by email to the Heads of the Hospital Pharmacy Service of 18 hospitals. The study period was from October 2021 to October 2022. The analyzed variables were the number of criteria that were considered met, total compliance (percentage of criteria met), by strategic line and by type or level of standard, globally and grouped by regions of Spain. RESULTS: 18 Hospital Pharmacy Services were included. The overall mean of standards met was 31.1 (95% CI: 24.8-37.6) and mean total compliance was 52.1% (95% CI: 44.4-59.7). The mean compliance by strategic line was line 1 Humanization culture: 46.5% (95% CI: 35.3-57.7), line 2 Patient empowerment: 47.4% (95% CI: 37.1- 57.8), line 3 Professional care: 49.7% (95% CI: 39.8-59.1), line 4 Physical spaces and comfort: 55.6% (95% CI: 46.3-64.8) and line 5 Organization of healthcare: 63.8% (95% CI: 55.8-71.9). CONCLUSION: The average compliance with the standards is between 40 and 60%, which indicates that humanization is present in the Hospital Pharmacy Services, but there is a wide margin for improvement. The main strength in the humanization of Hospital Pharmacy Services is a patient-centered care organization, and the area with the greatest room for improvement is the culture of humanization.

Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity.

Second-line treatments of autoimmune cytopenias (AC) are not well-defined in children. Mycophenolate mofetil (MMF) is an immunosuppressant agent that has been demonstrated to be safe and effective in this setting. A retrospective observational study was conducted in 18 children with prolonged AC who received MMF, in order to describe clinical and biological markers of response. The overall response rate of MMF at 20-30 mg/kg per day was 73.3%. All patients with Evans syndrome (n = 9) achieved complete response. Among the patients with monolineage AC (n = 9), those with an underlying inborn errors of immunity (IEI), tended to respond better to MMF. No biological markers related to treatment response were found. Rather, lymphocyte subpopulations proved useful for patient selection as a marker suggestive of IEI along with immunoglobulin-level determination.

Tapering of the thrombopoietin receptor agonist in paediatric patients with chronic immune thrombocytopenia: Is it possible?

It is not clear if platelet responses are sustained after thrombopoietin receptor agonist (ar-TPO) withdrawal in paediatric patients. A multicentre retrospective observational study was performed in children with chronic immune thrombopenia (cITP) to describe ar-TPO tapering and withdrawal in patients who had achieved a sustained complete response to ar-TPOs. Ten patients (eltrombopag n = 6, romiplostim n = 4) were included. Treatment withdrawal was performed after a mean tapering time of 7.6 months. Two patients relapsed (median follow-up time of 24 months). Slow tapering and withdrawal of ar-TPOs can be safely performed in cITP paediatric patients after achieving a sustained complete response.

Secondary immune thrombocytopenia in children: Characteristics and outcome of a large cohort from two Spanish centres.

AIM: To evaluate the incidence and outcome of secondary immune thrombocytopenia (ITP) in a large cohort of paediatric Spanish patients. METHODS: A retrospective observational study was conducted in two paediatric University hospitals in Spain between 2009 and 2019, which included children from 4 months to 18 years old diagnosed with ITP. Data were recorded from clinical charts: gender, age at diagnosis, coexisting condition and associated characteristics, outcome and treatment. RESULTS: Secondary ITP was diagnosed in 87 out of 442 patients (19.6%). Post-immunisation ITP was seen in younger children. The onset of secondary ITP to autoimmune diseases (AD) and immunodeficiencies (ID) was at an older age and had more tendency to be insidious, and platelet level was higher than primary ITP. Mean time from ITP onset to AD diseases or ID diagnosis was 1.2 and 2.6 years, respectively. Whereas the cumulative incidence of remission was significantly higher in post-immunisation and post-viral infection (compared with primary ITP patients), it was worse in AD and ID patients. CONCLUSIONS: Identification of secondary ITP is important as it predicts outcome. Most of them are diagnosed at ITP onset, but AD diseases and ID should be ruled out periodically as they are usually identified later.

Implementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases.

OBJECTIVE: To describe a risk-sharing program's implementation and  results on enzyme replacement therapy for lysosomal diseases. METHOD: The program was designed and implemented in a referral hospital for congenital metabolic diseases. The conclusion of  agreements required the following phases: 1) To define and agree on  response variables and criteria to treatment; 2) to assign discount  percentage to each stage of effectiveness; 3) to prepare and sign the  agreement by all parties; 4) to implement the agreement; 5) to  individualize purchases management; 6) to evaluate clinical results, and  7) to issue an annual report. RESULTS: Eight patients were included in the program (four with Hurler's disease, two with Pompe and two with Gaucher), five of them  were women and three were men. After analyzing the defined variables  and response criteria, all patients presented full effectiveness after two  or three years of follow-up except one of them that could not be  evaluated. Given the effectiveness achieved, the hospital made full  payment of all administered therapies. CONCLUSIONS: The implanted risk-sharing program is Spain's first  published event of paying for clinical results using orphan drugs.  Economic impact has been limited, and program implementation has  gone through a complex process of formulation and management.  However, the greatest achievement has been to reduce the knowledge  gap between efficacy and effectiveness, stating that the therapies  administered have shown the optimal benefits for which the funder is  willing to pay.

Objetivo: Describir la implantación y los resultados de un programa de riesgo compartido para el tratamiento enzimático sustitutivo de  enfermedades lisosomales.Método: Se diseñó y aplicó el programa en un hospital de referencia para enfermedades congénitas del metabolismo. La  consecución de los acuerdos requirió las siguientes fases: 1) Definir y  consensuar las variables y criterios de respuesta al tratamiento; 2)  asignar el porcentaje de descuento a cada escalón de efectividad; 3)  elaborar y firmar el acuerdo por todas las partes; 4) implantar el  acuerdo; 5) individualizar la gestión de compras; 6) evaluar los  resultados clínicos, y 7) emitir un informe anual.Resultados: Se incluyeron ocho pacientes en el programa (cuatro con enfermedad de Hurler, dos con enfermedad de Pompe y dos con  enfermedad de Gaucher), siendo cinco de ellos mujeres y tres varones.  Tras analizar las variables y criterios de respuesta definidos, todos los  pacientes presentaron efectividad plena tras dos o tres años de  seguimiento, excepto uno de ellos que no se pudo evaluar. Dada la  efectividad alcanzada, el hospital realizó el pago íntegro de todos los  tratamientos administrados.Conclusiones: El programa de riesgo compartido implantado es la primera experiencia publicada de pago por resultados clínicos en  medicamentos huérfanos en España. El impacto económico ha sido  limitado y la implantación del programa no ha estado exenta de  complejidad de formulación y de gestión. Sin embargo, el mayor logro  ha sido reducir la brecha de conocimiento entre eficacia y efectividad,  constatando que las terapias administradas han mostrado los beneficios  óptimos por los que está dispuesto a pagar el financiador.

Impact of adherence on subcutaneous interferon beta-1a effectiveness administered by Rebismart® in patients with multiple sclerosis.

BACKGROUND: Adherence to disease-modifying drugs (DMDs) is one of the key factors for achieving optimal clinical outcomes. Rebismart® is an injection device for subcutaneous administration of interferon beta-1a (INF ß-1a) that is also able to monitor adherence objectively. The aim of this study was to describe adherence to INF ß-1a using the said electronic autoinjection device and to explore the relationship between adherence and relapses in a Spanish cohort. METHODS: This is a retrospective observational study in which 110 Spanish patients self-administered INF ß-1a subcutaneously using an electronic autoinjection device between June 2010 and June 2015. The primary end point was the percentage of adherence measured by Rebismart® to subcutaneous INF ß-1a injections calculated as number of injections received in time period versus number of injections scheduled in time period. Other variables recorded were demographic and clinical data. Statistical analysis was performed using SPSS 19.0 software. RESULTS: Median adherence for the total study period was 96.5% (interquartile range [IQR]: 91.1-99.1). Similar values were observed during the first 6 months: 98.7% (IQR: 91.3-100), and the last 6 months: 97.6% (IQR: 91.1-99.8). Median duration of treatment was 979 days (IQR: 613.8-1,266.8). During the entire treatment period, 77.3% of patients were relapse free and mean annualized relapse rate was 0.14 (standard deviation: 0.33). Increased adherence was associated with better clinical outcomes, leading to lower relapse risk (odds ratio: 0.953; 95% confidence interval: 0.912-0.995). Specifically, every percentage unit increase in adherence resulted in a 4.7% decrease in relapse. CONCLUSION: Patients with multiple sclerosis who self-injected INF ß-1a with Rebismart® had excellent adherence, correlating with a high proportion of relapse-free patients and very low annualized relapse rate.

Measurement of the percentage of root filling in oval-shaped canals obturated with Thermafil Obturators and Beefill 2in1: In vitro study.

BACKGROUND: The aim of the study was to measure the percentage of root canal fillings in long oval canals obturated with thermoplasticized gutta-percha techniques, Beefill 2in1® and Thermafil Obturators®. MATERIAL AND METHODS: Fifty four mandibular incisors were selected after bucco-lingual and mesio-distal radiographs showed at 5 mm from apex an internal long:short diameter ≥2. Teeth were instrumented with Protaper Universal and divided in two groups of 27. Group 1 was obturated with Thermafil Obturators® and group 2 with Beefill 2in1®. Two horizontal sections were cut at 5 and 7 mm from the apex and photographed in a stereo-microscope. The total area of the canal and filled canal in cross-sections were measured with AutoCad and the percentages of gutta-percha-sealer and voids in the canal were obtained. RESULTS: Both systems achieved high percentage of filled canal, Thermafil 96.8% and Beefill 2in1 98.9%. The percentages of voids in both groups were very low. No significant differences were found between the two groups . The percentage obtained at 5 and 7 mm from the apex in both groups showed no significant difference. CONCLUSIONS: The percentages of filled canal (gutta-percha-sealer) were high and these two thermoplasticized techniques are suitable for long oval canals obturation. Key words:Long oval canal, oval canal, thermoplasticized obturation.

¿Perspectiva médica o visión integral del hombre?: análisis crítico de la anticoncepción

El objetivo principal de este trabajo es analizar si la anticoncepción es un asunto perteneciente a la Medicina, como lo indica la práctica, o si merece una visión bajo una perspectiva más amplia. Se analizan publicaciones que estudian el problema de la efectividad de la anticoncepción considerando variables demográficas, económicas y sociales que gravitan a la hora de evaluar la eficacia en anticoncepción. Se incluye en el análisis aspectos espirituales y psicológicos, que generalmente son subestimados, pero que fueron considerados en el pensamiento filosófico y antropológico que desplegó K. Wojtyla, quien parte de la base de la unidad de la persona.(AU)

The main objective of this work is to discuss whether contraception pertains to the medicine field, as indicated by the practice or if that concept should be considered from a wider perspective. Different articles about the effectiveness of contraception are analyzed based on demographic, economic and social variables which weigh when assessing the contraception efficacy. The analysis includes spiritual and psychological aspects, generally underestimated, but which used to be considered in the philosophical and anthropological thinking developed by K. Wojtyla, based on the unity of the individual.(AU)

Lithium citrate as treatment of Canavan disease.

Canavan disease is a rare autosomal recessive leukodystrophy characterized by abnormal accumulation of N-acetyl aspartate (NAA) in brain white matter. Currently, there is no cure for this disease, and management of patients consists mainly of treating symptoms. We describe a 3-month-old girl who was hospitalized for poor head control and decreased muscle tone. A battery of laboratory and genetic (homozygous mutation p.C218X) analysis revealed the presence of Canavan disease. Lithium citrate was initiated at a dosage of 45 mg/kg per day after diagnosis. Periodic controls of thyroid and liver function, and lithium levels in blood showed that this drug was sure and well tolerated. After 1 year of treatment, NAA levels decreased by approximately 20% in the brain region, urinary NAA levels showed a reduction of 80%, and patient improved alertness and visual tracking but continued with no heat support, axial hypotonia, and spastic diplegia. In our patient, the results obtained after drug administration are important with respect to the decrease in NAA and more discreet in clinical improvement. However, given the absence of adverse effects and limited treatment options, lithium citrate may be a good alternative to stop the progression of the disease and improve the quality of life of patients.

Arcobacter molluscorum sp. nov., a new species isolated from shellfish.

Nineteen bacteria isolates recovered from shellfish samples (mussels and oysters) showed a new and specific 16S rDNA-RFLP pattern with an Arcobacter identification method designed to recognize all species described up to 2008. These results suggested that they could belong to a new species. ERIC-PCR revealed that the 19 isolates belonged to 3 different strains. The sequence of the 16S rRNA gene of a representative strain (F98-3(T)) showed 97.6% similarity with the closest species Arcobacter marinus followed by Arcobacter halophilus (95.6%) and Arcobacter mytili (94.7%). The phylogenetic analysis with the16S rRNA, rpoB, gyrB and hsp60 genes placed the shellfish strains within the same cluster as the three species mentioned (also isolated from saline habitats) but they formed an independent phylogenetic line. The DDH results between strain F98-3(T) and A. marinus (54.8%±1.05), confirmed that it represents a new species. Several biochemical tests differentiated the shellfish isolates from all other Arcobacter species. Although the new species was different from A. mytili, they shared not only the same habitat (mussels) but also the characteristic of being so far the only Arcobacter species that are simultaneously negative for urea and indoxyl acetate hydrolysis. All results supported the classification of the shellfish strains as a new species, for which the name Arcobacter molluscorum sp. nov. with the type strain F98-3(T) is proposed (=CECT 7696(T)=LMG 25693(T)).

Técnicas de tratamiento de la esterilidad: aspectos tecnológicos y éticos abordados en el Informe Warnock

El Informe Warnock aborda parte de los problemas que surgen a partir del diagnóstico de esterilidad, tanto para los individuos como para toda la sociedad. Justifica el recurso de técnicas para solucionar la imposibilidad de concebir. Se describen los distintos procedimientos dando las recomendaciones para cada una de las técnicas empleadas hasta el momento: inseminación artificial (homóloga y heteróloga), fecundación in vitro, donación de óvulos y embriones, útero subrogado. Aborda el uso extendido de las técnicas de tratamiento de la esterilidad para otros fines: evitar la transmisión de enfermedades hereditarias y selección de sexo. Asimismo, realiza sugerencias para una práctica correcta en todos los procedimientos y propone seguimientos y revisiones. En paralelo al análisis exhaustivo de la Comisión Warnock, se actualizan los datos procedimentales, evaluando los aspectos éticos y la eficiencia de algunas técnicas.(AU)

The Warnock Report deals with some of the problems that arise from the infertility diagnosis, both for individual and for the whole society. It justifies the use of techniques to solve the inability to conceive. Different procedures are described, and the Report includes recommendations for each of the techniques used as of said date: artificial insemination (both homologous and heterologous), in vitro fecundation; ovum and embryo donation, surrogate womb. It also refers to the extended use of infertility treatment techniques for other purposes, to wit: to avoid the transmission of hereditary diseases and for gender selection. Besides, it also includes suggestions for an adequate practice in all procedures, and it proposes followups and revisions. In addition to the exhaustive analysis of the Warnock Commission, procedural data is updated, assessing the ethical aspects and the efficiency of some techniques.(AU)