Together4RD position statement on collaboration between European reference networks and industry.

Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5-6% of rare diseases have dedicated treatments. Given with the huge number of conditions classed as rare (which is increasing all the time), this equates to major unmet need for patients (over 30 million in the EU alone). Worryingly, the pace of Research and Innovation in Europe is lagging behind other regions of the world, and a seismic shift in the way in which research is planned and delivered is required, in order to remain competitive and-most importantly-bring meaningful, disease-altering treatments to those who desperately need them. The European Reference Networks (ERNs), launched in 2017, hold major potential to alleviate many of these challenges, and more, but only if adequately supported (financially, technically, and via robust policies and infrastructure) to realise that potential: and even then, only if able to forge robust collaborations harnessing the expertise, resources, knowledge and data of all stakeholders involved in rare disease, including Industry. To-date, however, ERN-Industry interactions have been largely limited, for a range of reasons (concerning barriers both tangible and perceived). This Position Statement analyses these barriers, and explains how Together4RD is seeking to move the needle here, by learning from case studies, exploring frameworks for collaboration, and launching pilots to explore how best to plan and deliver multistakeholder interactions addressing real research needs.

Adaptation, implementation, and evaluation of an online health sciences training program for brief smoking intervention: A pre-post study in four European countries.

BACKGROUND: Tobacco cessation intervention has a positive impact on quality of care. For health professionals, limited competency in this area may be associated with poor training during their academic programs. There is a clear need to further develop and implement training programs to improve tobacco cessation knowledge, skills, and attitudes among healthcare students. OBJECTIVES: The aim of this study was to assess the effectiveness of the innovative online training program "Brief Intervention in Smoking Cessation" for healthcare students to improve their knowledge, skills, and attitudes. DESIGN: A pre-post evaluation study with a satisfaction assessment tool was used. SETTING: Seven universities from four European countries, including Belgium, Portugal, Spain, and the United Kingdom, participated. PARTICIPANTS: One thousand and seventy-two (1072) undergraduate students participated, with 851 completing the online program. METHODS: All participants completed the "Brief Intervention in Smoking Cessation" online program, which consisted of five theoretical modules, five videos, and three virtual simulation cases between January 2020 and June 2022. Knowledge was assessed by a multiple-choice test, and practical skills were assessed by a simulation algorithm, both of which were developed by education and smoking cessation experts. Competency was achieved when students successfully completed both assessments. Satisfaction was measured using an ad hoc 16-item questionnaire. Pre-post changes in knowledge were assessed using a paired Student's t-test. RESULTS: Eighty-six percent of the students achieved smoking cessation competency. Students significantly improved their knowledge score on a scale of 0 to 10 points, with a mean pre-program score of 3.79 vs a mean post-program score of 7.33 ([-3.7 - -3.4] p < 0.001), acquiring sufficient attitudes and skills (simulation mean of 7.4 out of 10 points). Students were highly satisfied with the program (8.2 out of 10) and recommended it to other students (8.4 out of 10). CONCLUSIONS: The "Brief Intervention in Smoking Cessation" online training program is effective for the acquisition of smoking cessation competencies among European health profession students.

Case report: Challenging post-traumatic pseudoarthrosis of C2 odontoid fracture and extreme C1-C2 subluxation.

Background: Type II C2 odontoid fractures are common traumatic cervical spine lesions and have the highest risk of non-union without fusion. Pseudoarthrosis may lead to extreme anatomic deformation, and poor clinical outcomes. A 50-year-old male, following a traumatic C2 dens fracture treated when the patient was 44 years of age, newly presented at age 50 with pseudoarthrosis and severe C1-C2 subluxation that required a secondary fusion using a three-dimensional (3D) printed model for appropriate surgical planning. Case Description: A 44-year-old male underwent a C1 posterior arch osteotomy to treat cervical myelopathy after a type 2 odontoid fracture. Now at age 50, he newly presented with recurrent myelopathy, and marked cord compression due to a C2 odontoid-dens pseudoarthrosis, and extreme C1 subluxation over C2. A 3D model of the patients' cervical-spine anatomy was created for surgical planning and led to an anterior C1-C2 freeing of the pseudoarthrosis, followed by a posterior C0-C1 decompression, deformity reduction, C0, C2 laminar, and C3/4 trans-articular arthrodesis. Six months postoperatively, the patient improved from a pre-operative mJOA score of 5 to a postoperative mJOA score of 14. Conclusion: A 3D model was successfully utilized to plan a secondary 360° fusion for a pseudoarthrosis diagnosed 6 years after an original C-C2type II odontoid fusion in a now 50-year-old male.

Endoscopic treatment of spondylodiscitis: systematic review.

BACKGROUND: Spondylodiscitis is a severe condition where standalone antibiotic therapy resolves most cases. In refractory infections, open surgery may aid with infection debulking. However, significant morbidity can occur. Nowadays, endoscopic approaches are emerging as an alternative. However, until now, only small-scale studies exist. Being so, we carried the first systematic review on spondylodiscitis endoscopic debridement indications, technique details, and outcomes. METHODS: Search for all English written original studies approaching the spondylodiscitis endoscopic treatment was performed using PubMed and EBSCO host. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed, and a pre-specified protocol was registered at PROSPERO (CRD42020183657). RESULTS: Fourteen studies involving 342 participants were included for analysis. Data overall quality was fair. Indications for the endoscopic approach were poorly defined. The most consensual indication was refractory infection to conservative treatment. Spinal instability or neurological deficits were common exclusion criteria. All authors described similar techniques, and despite the frequent severe co-morbidities, procedure morbidity was low. Re-interventions were common. Microorganism identification varied from 54.2 to 90.4%. Treatment failure among studies ranged from 0 to 33%. Pain, functional status, and neurological deficits had satisfactory improvement after procedures. CONCLUSIONS: The endoscopic debridement of spondylodiscitis seems to be an effective and safe approach for refractory spondylodiscitis. A novel approach with initial endoscopic infection debulking and antibiotic therapy could improve the success of spondylodiscitis treatment.

Neurocognition, functional outcome, and quality of life in remitted and non-remitted schizophrenia: A comparison with euthymic bipolar I disorder and a control group.

There are discrepancies about if the severity of the symptomatology in schizophrenia is related to neurocognitive performance, functional outcome, and quality of life (QoL). Also, there are controversial data about the comparison between euthymic bipolar patients and different subgroups of schizophrenia in neurocognition, functioning, and QoL level. The present study aimed to compare the neurocognitive performance, functional outcome, and QoL of remitted and non-remitted patients with SC with respect to a group of euthymic patients with BD, and a control group. It included 655 subjects: 98 patients with schizophrenia in remission (SC-R), 184 non-remitted patients with schizophrenia (SC-NR), 117 euthymic patients with bipolar I disorder (BD), and 256 healthy subjects. A comprehensive clinical, neurocognitive (six cognitive domains), functional, and QoL assessment was carried out. Remission criteria of Andreasen were used to classify schizophrenia patients as remitted or non-remitted. Compared with control subjects all groups of patients showed impaired neurocognitive performance, functioning and QoL. SC-R patients had an intermediate functioning between control subjects and SC-NR, all at a neurocognitive, functional, or QoL level. There were no significant differences between SC-R and BD. These results suggest that reaching clinical remission is essential to achieve a better level of psychosocial functioning, and QoL. Likewise, the results of this study suggest that euthymic patients with bipolar disorder and patients with schizophrenia in remission are comparable at the neurocognitive and functional levels, which might have implications in the pathophysiology of both disorders.

Case report: Rare convexity meningeal chondroma mimicking a meningioma.

BACKGROUND: Intracranial chondromas account for 0.2-0.3% of all intracranial neoplastic lesions and less than a quarter arise in the convexity or falx. Despite its benign nature, exceedingly rare malignant transformations exist. The misdiagnosis with meningiomas is frequent and may be related with chondromas' similar insidious clinical presentation and imaging features. Standalone surgery is advised and complete resection provides the definitive treatment. CASE DESCRIPTION: A 44-year-old female presents with insidious headache, visual disturbances, and papilledema. The imaging studies were compatible with frontal parasagittal meningioma. Surgery revealed a meningeal based mass, mostly avascular and with a well-demarked surgical plane from the brain parenchyma. Complete resection with meningeal margins was achieved and the histopathologic examination revealed a chondroma. The patient symptoms subsided and no surgical complications existed. CONCLUSION: Intracranial convexity chondromas constitute a rare differential diagnosis for meningiomas. The present case reinforces the current scarce data and serves as reminder for clinicians diagnosing and treating intracranial tumors.

Early life adversity and the specificity of autobiographical memory amongst people with schizophrenia.

BACKGROUND: People with schizophrenia diagnoses are thought to have difficulty retrieving memories of specific autobiographical events because of attempts to avoid the negative affect associated with previous adversity. We provide the first investigation of the association between early adversity (e.g., childhood abuse) and autobiographical memory problems amongst people with and without schizophrenia. METHOD: Participants with diagnoses of schizophrenia (n = 79) and participants without diagnoses (n = 41) completed the Maltreatment and Abuse Chronology of Exposure (MACE) interview schedule and a cued recall task. RESULTS: Participants exposed to greater number of, and more severe, childhood adversity retrieved fewer specific autobiographical memories. However, participants with schizophrenia retrieved fewer specific memories than control participants without diagnoses irrespective of the presence, severity or number of adversities they experienced. CONCLUSIONS: Adversity contributes towards autobiographical memory difficulty but adversity does not explain why people with schizophrenia differ from diagnoses-free people in their autobiographical memory abilities.

A spontaneous cervical epidural hematoma mimicking a stroke - A case report.

BACKGROUND: A spontaneous cervical epidural hematoma (SCEH) is a rare occurrence. It usually presents with quadriparesis, but it may present with hemiparesis or hemiplegia and can easily be misdiagnosed as stroke. We present a case of stroke mimicking SCEH with hemiparesis worsened after tissue plasminogen activator therapy (tPA) followed by emergency cervical decompression laminectomy. CASE DESCRIPTION: A 63-year-old female presented to the emergency department with sudden onset of posterior neck and left shoulder pain with the right side hemiparesis. On neurological examination, the patient had motor power of the right upper and lower limb of 2/5 Medical Research Council, and her whole left extremities were intact. Her medical history was unremarkable for trauma, hemorrhagic diathesis, or anticoagulation therapy. A head computed tomography was ordered ruling out intracranial hemorrhage. Assuming an acute ischemic stroke as the most likely diagnosis, alteplase (tPA) was administered 3 h after symptoms onset, however without any improvement in patient symptoms. A cervical magnetic resonance was performed revealing a right paramedian epidural mass-like lesion between C3-C6. The patient underwent cervical laminectomy C3-C6 with evacuation of epidural hematoma with significant clinical status improvement after surgery. CONCLUSION: tPA treatment is frequently used as first-line therapy for acute ischemic stroke. Therefore, physicians should be aware of the potential for the SCEH in patients presenting with hemiparesis, as tPA administration may increase cervical hematoma leading to clinical deterioration. With this case, we intended to warn about SCEH as a rare but possible entity, since its early recognition and prompt clinical intervention may improve neurological outcomes.

Odontoid process hypoplasia and bipartite atlas associated with atlanto-axial instability / Hipoplasia do processo odontóide e atlas bipartido associado a instabilidade atlanto-axial / Hipoplasia de la apófisis odontoide y atlas bipartito asociado con inestabilidad atlantoaxial

ABSTRACT Surgical treatment of craniocervical junction pathology has evolved considerably in recent years with the implementation of short fixation techniques rather than long occipito-cervical fixation (sub-axial). It is often difficult and sometimes misleading to determine the particular bone and vascular features (high riding vertebral artery, for instance) using only the conventional images in three orthogonal planes (axial, sagittal and coronal). The authors describe a rare clinical case of congenital malformation of the craniovertebral junction consisting of hypoplasia/agenesis of the odontoid process and bipartite atlas associated with atlantoaxial instability which was diagnosed late in life in a patient with a previous history of rheumatologic disease. The authors refer to the diagnostic process, including new imaging techniques, and three-dimensional multiplanar reconstruction. The authors also discuss the surgical technique and possible alternatives.

RESUMO O tratamento cirúrgico da patologia da charneira crânio-cervical tem evoluído consideravelmente nos últimos anos com a implementação de técnicas de fixação curta em detrimento de longas fixações occipito-cervicais (sub-axiais). Frequentemente é difícil e por vezes enganador determinar as variações ósseas e vasculares (artéria vertebral high-riding p.e.) apenas pelas imagens convencionais em três planos ortogonais (axial, sagital e coronal). Os autores descrevem um caso clínico raro de malformação congénita da charneira crânio-cervical constituída por hipoplasia/agenésia da odontoide e atlas bipartido, associado a instabilidade atlanto-axial e diagnosticado tardiamente em doente com antecedentes reumáticos prévios. Descreve-se o processo diagnóstico, incluindo novas técnicas de imagiologia e de reconstrução multiplanar tridimensional. Discute-se a técnica cirúrgica utilizada e possíveis alternativas.

RESUMEN El tratamiento quirúrgico de la patología de la región craneocervical ha evolucionado considerablemente en los últimos años con la aplicación de técnicas de fijación cortas en lugar de fijación occipito-cervical larga (sub-axial). A menudo es difícil y hasta engañoso determinar las características óseos y vasculares (arteria vertebral high-riding, por ejemplo) usando sólo imágenes convencionales en tres planos ortogonales (axial, sagital y coronal). Los autores describen un caso clínico poco frecuente de malformación congénita de la unión craneocervical que consiste en la hipoplasia/agenesia de la apófisis odontoides y atlas bipartito, asociado con la inestabilidad atlantoaxial, diagnosticado tardiamente en pacientes con enfermedades reumatológicas previas. Los autores relatan el proceso de diagnóstico, incluyendo nuevas técnicas de imagen y la reconstrucción multiplanar tridimensional. Los autores también discuten la técnica quirúrgica y las posibles alternativas.

Ensayo clínico controlado y aleatorizado para evaluar el efecto que tiene la intervención de un farmacéutico especialista en los problemas relacionados con la medicación de pacientes ancianos ingresados en una unidad de corta estancia de urgencias / Efficacy of a reconciliation intervention by a specialized pharmacist to resolve medication-related problems of elderly patients admitted to an emergency department short-stay unit: a randomized clinical trial

Objetivo: Determinar el efecto en los problemas relacionados con la medicación (PRM) de la intervención de un farmacéutico centrada en la conciliación de medicación (CM) en los pacientes 65 años ingresados en una unidad de corta estancia (UCE) vinculada a un servicio de urgencias hospitalario (SUH). Método: Ensayo clínico controlado y aleatorizado de 17 meses de duración (febrero 2013-junio 2014) realizado en la UCE de un SUH. Se incluyeron pacientes 65 años con alto riesgo de sufrir PRM. Ciento treinta pacientes fueron asignados aleatoriamente a un grupo control (n = 65) o a un grupo de intervención (n = 65). El tipo de intervención realizada fue la CM mediante un farmacéutico especialista. La variable de resultado principal fue la frecuencia de PRM resueltos en ambos grupos. Resultados: Se revisaron un total de 3.081 medicamentos en 130 pacientes con una edad media de 79 (DE 7,6) años, de los cuales 66 (50,8%) fueron hombres. Se registraron discrepancias en 1.901 (61,7%) de los medicamentos. Los grupos control y de intervención no tuvieron diferencias significativas respecto a edad, sexo y número de discrepancias encontradas. Se detectaron un total de 213 PRM, 110 (51,6%) en el grupo control y 103 (48,4%) en el grupo de intervención (p = 0,380). La intervención del farmacéutico redujo los PRM de forma estadísticamente significativa (grupo de intervención 83,5% vs grupo control 26,4%; p < 0,001). Conclusiones: La CM mediante la incorporación de un farmacéutico especialista reduce los PRM de los pacientes ancianos de alto riesgo de PRM ingresados en una UCE (AU)

Objective: To determine the effect on medication-related problems (MRPs) of a process of medication reconciliation carried out by a specialized pharmacist for patients aged 65 years or older admitted to an emergency department short-stay unit (SSU). Methods: Randomized clinical trial of 17 months (February 2013-June 2014) in the SSU of a hospital emergency department. Patients were aged 65 years or older at high risk of MRPs. A total of 130 patients were randomized to a control group (n = 65) or the intervention group (n = 65). The reconciliation process (intervention) was carried out by a specialized pharmacist. The main outcome was the number of MRPs resolved in each group. Results: A total of 3081 medications for 130 patients were reviewed. The patients' mean (SD) age was 79 (7.6) years and 66 (50.8%) were men. Discrepancies affecting 1901 medications (61.7%) were detected. The distributions of age, sex, and number of medication discrepancies were similar in the control and intervention groups. A total of 213 MRPs were detected; 110 (51.6%) were in the control group and 103 (48.4%) in the intervention group (P = .380). Through the pharmacist's reconciliation, significantly more of the MRPs were resolved in the intervention group (83.5%) than in the control group (26.4%) (P < .001). Conclusions: Medication reconciliation by a specialized pharmacist in the emergency department reduces MRPs for at-risk elderly patients in a SSU (AU)

[Efficacy of a reconciliation intervention by a specialized pharmacist to resolve medication-related problems of elderly patients admitted to an emergency department short-stay unit: a randomized clinical trial]. / Ensayo clínico controlado y aleatorizado para evaluar el efecto que tiene la intervención de un farmacéutico especialista en los problemas relacionados con la medicación de pacientes ancianos ingresados en una unidad de corta estancia de urgencias.

OBJECTIVES: To determine the effect on medication-related problems (MRPs) of a process of medication reconciliation carried out by a specialized pharmacist for patients aged 65 years or older admitted to an emergency department short-stay unit (SSU). MATERIAL AND METHODS: Randomized clinical trial of 17 months (February 2013-June 2014) in the SSU of a hospital emergency department. Patients were aged 65 years or older at high risk of MRPs. A total of 130 patients were randomized to a control group (n = 65) or the intervention group (n = 65). The reconciliation process (intervention) was carried out by a specialized pharmacist. The main outcome was the number of MRPs resolved in each group. RESULTS: A total of 3081 medications for 130 patients were reviewed. The patients' mean (SD) age was 79 (7.6) years and 66 (50.8%) were men. Discrepancies affecting 1901 medications (61.7%) were detected. The distributions of age, sex, and number of medication discrepancies were similar in the control and intervention groups. A total of 213 MRPs were detected; 110 (51.6%) were in the control group and 103 (48.4%) in the intervention group (P = .380). Through the pharmacist's reconciliation, significantly more of the MRPs were resolved in the intervention group (83.5%) than in the control group (26.4%) (P < .001). CONCLUSION: Medication reconciliation by a specialized pharmacist in the emergency department reduces MRPs for at-risk elderly patients in a SSU.

OBJETIVO: Determinar el efecto en los problemas relacionados con la medicación (PRM) de la intervención de un farmacéutico centrada en la conciliación de medicación (CM) en los pacientes 65 años ingresados en una unidad de corta estancia (UCE) vinculada a un servicio de urgencias hospitalario (SUH). METODO: Ensayo clínico controlado y aleatorizado de 17 meses de duración (febrero 2013-junio 2014) realizado en la UCE de un SUH. Se incluyeron pacientes 65 años con alto riesgo de sufrir PRM. Ciento treinta pacientes fueron asignados aleatoriamente a un grupo control (n = 65) o a un grupo de intervención (n = 65). El tipo de intervención realizada fue la CM mediante un farmacéutico especialista. La variable de resultado principal fue la frecuencia de PRM resueltos en ambos grupos. RESULTADOS: Se revisaron un total de 3.081 medicamentos en 130 pacientes con una edad media de 79 (DE 7,6) años, de los cuales 66 (50,8%) fueron hombres. Se registraron discrepancias en 1.901 (61,7%) de los medicamentos. Los grupos control y de intervención no tuvieron diferencias significativas respecto a edad, sexo y número de discrepancias encontradas. Se detectaron un total de 213 PRM, 110 (51,6%) en el grupo control y 103 (48,4%) en el grupo de intervención (p = 0,380). La intervención del farmacéutico redujo los PRM de forma estadísticamente significativa (grupo de intervención 83,5% vs grupo control 26,4%; p < 0,001). CONCLUSIONES: La CM mediante la incorporación de un farmacéutico especialista reduce los PRM de los pacientes ancianos de alto riesgo de PRM ingresados en una UCE.

Determinación de los grados de resistencia antihelmíntica que presentan los pequeños strongylus frente a las lactonas macrocíclicas, según el test de análisis del desarrollo de larvas (LDA) en equinos de las sabanas de Casanare / Determining the degree of anthelmintic resistance against macrocyclic lactones in small strongylus, based on the larvae development analysis (LDA) in horses from grasslands in the department of Casanare

El presente estudio se desarrolló en las sabanas de Casanare, a fin de determinar los grados de susceptibilidad o resistencia antihelmíntica que presentan las poblaciones de peque-ños Strongylus de esta región del país, frente a las lactonas macrocíclicas. Se muestrearon cuatro municipios del departamento: Aguazul, Paz de Ariporo, Maní y El Yopal, entre junio del 2006 y abril del 2007, recolectando en cada uno de los municipios diez muestras de materia fecal fresca, directamente de los potreros y completamente al azar. Las muestras fueron procesadas mediante la técnica coprológica de MacMaster, estableciendo el número de hpg de materia fecal por municipio. A las seis muestras con el conteo de hpg de materia fecal más alto, de cada predio se extrajeron larvas L3 mediante las técnicas de coprocultivo y Baermann-Wetzel con las cuales se corrió la prueba análisis del desarrollo de larvas (LDA), detectando poblaciones de pequeños Strongylus altamente susceptibles a la acción de las lactonas macrocíclicas (ivermectina).

This study was conducted in the grasslands of the Department of Casanare, seeking to determine the degree of anthelmintic susceptibility or resistance against macrocyclic lactones in small populations of Strongylus in this region of the country. Samples were taken from four municipalities in the department: Aguazul, Paz de Ariporo, Maní and El Yopal, between June, 2006 and April, 2007, where ten fresh fecal samples were collected in each municipality, directly from the field and in a completely random way. The samples were processed using the MacMaster coprological technique, thus determining the highest count of fecal epg by municipality. L3 larvae were extracted from each of the six samples with the highest count of fecal epg through the coprological and Baermann-Wetzel tests with which the Larvae Development Analysis (LDA) test was run, detecting Small Strongylus highly susceptible to the action of macrocyclic lactones (ivermectin).

Determinación de géneros de endoparásitos que afectan a los equinos de las sabanas del Casanare / Determination of endoparasites generes that affect equines of Casanare, through the identification of larvae L3

El estudio se desarrollo en las sabanas del departamento del Casanare, con el fin de identificar los géneros de endoparásitos gastrointestinales y pulmonares que afectan a los equinos de esta región del país, se muestrearon cuatro municipios del departamento: Aguazul, Paz de Ariporo, Maní y El Yopal, entre los meses de junio de 2006 y abril de 2007, recolectando en cada uno de los municipios diez muestras de materia fecal fresca, directamente de los potreros y completamente al azar. Las muestras fueron procesadas mediante las técnicas coprológicas de Macmaster, identificando huevos de tipo Strongylido spp., Strongyloide spp., triodonthoforus spp., Habronema spp., y Oxyuros spp. Coprocultivo que determina la presencia de larvas L3 de pequeños Strongylus (86,2 por ciento) Strongylus vulgaris (6,2 por ciento), Strongylus edentatus (3,6 por ciento), Strongylus equinus (2,8 por ciento), Strongyliodes westeri (1,1 por ciento) y trichostrongylus axei (0.20 por ciento). En el presente estudio mediante la técnica de Baermann no se encontraron lavar de Dyctiocaulus spp...