Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

Educación terapéutica del paciente; Taller de pacientes; Enfermedad de células falciformesEducació terapèutica del pacient; Taller de pacients; Malaltia de cèl·lules falciformesPatient therapeutic education; Patients workshop; Sickle cell diseaseBackground Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of health education and suffer from isolation compared to those living with other chronic conditions. As a result, SCD patients are much less likely to partner in the design of research related to their condition and are limited in their ability to influence the research agenda. Aiming to increase the influence of patient voice in the development of SCD-related research, we set out to develop patient centered actions in the frame of International Scientific Conferences in collaboration with the ERN-EuroBloodNet, Oxford Blood Group, Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT), the European Hematology Association and the British Society of Hematology. Results Two events were organized: a one-day research prioritization workshop and a series of education sessions based on topics chosen by SCD patients and their families. Methodology and outcomes were analyzed in terms of influence on scientific, medical and patient communities. Conclusion The ERN-EuroBloodNet workshops with patients at annual ASCAT conferences have provided an opportunity to enhance patient experience and empowerment in SCD in Europe, producing benefits for patients, caregivers, patient associations and health professionals. Future work should focus on delivering the research questions identified at this workshop and the opportunities to share information for patient education

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

BackgroundOne objective of the Belgian Rare Diseases plan is to improve patients' management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing conditions and establishing reference laboratories.MethodsA feasibility study was performed from May 2015 until August 2016 in order to select the financeable biochemical analyses, and, among them, those that should be performed by reference laboratories. This selection was based on an inventory of analyses used for rare diseases and a survey addressed to the Belgian laboratories of clinical pathology (investigating the annual analytical costs, volumes, turnaround times and the tests unavailable in Belgium and outsourced abroad). A proposal of financeable analyses, financing modalities, reference laboratories' scope and budget estimation was developed and submitted to the Belgian healthcare authorities. After its approval in December 2016, the implementation phase took place from January 2017 until December 2019.ResultsIn 2019, new reimbursement conditions have been published for 46 analyses and eighteen reference laboratories have been recognized. Collaborations have also been developed with 5 foreign laboratories in order to organize the outsourcing and financing of 9 analyses unavailable in Belgium.ConclusionsIn the context of clinical pathology and rare diseases, this initiative enabled to identify unreimbursed analyses and to meet the most crucial financial needs. It also contributed to improve patients' management by establishing Belgian reference laboratories and foreign referral laboratories for highly-specific analyses and a permanent surveillance, quality and financing framework for those tests

Expression des produits protéïques du gène H-ras dans des tissus hépatiques normaux et néoplasiques

Doctorat en sciences médicalesinfo:eu-repo/semantics/nonPublishe

Expression des produits protéïques du gène H-ras dans des tissus hépatiques normaux et néoplasiques

Doctorat en sciences médicalesinfo:eu-repo/semantics/nonPublishe

Les examens de laboratoire et la pratique clinique: Du diagnostic d'un syndrome inflammatoire au depistage du cancer colique

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

News in sickle cell disease

info:eu-repo/semantics/publishe

Relative steady-state expression of the different post-translational products of p21-H-ras from normal rat tissues. A 2D-western immunoblot study

Proteins extracts from rat cell lines or tissues expressing normal or activated c-H-ras genes, or normal N-ras gene were submitted to westernblot analysis with an anti-H, K, N p21-ras antibody. This showed that p21-H-ras products resolved into four spots (a, b, c, d) that are readily distinguishable from the normal p21-N-ras products (spots e, f, g), and also from two other products (spots a', b') present in extracts from cells which overexpress a Val12-mutated H-ras gene. Considering metabolic isotopic labeling and cell fractionation, we were able to establish the correspondance of spots a, b, c, d with the known steps of the sequential post-translational processing (farnesylation, further carboxymethylation and ultimate palmitoylation) of p21-H-ras. The palmitoylated product predominates in normal brain and still more in normal adult liver tissues, whereas its relative level decreases in proliferating liver cells.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Placental transfer of cotinine at 12–17 weeks of gestation and at term in heavy smokers

The objective of this study was to compare the placental transfer of cotinine from maternal to fetal circulation in heavy chronic smokers during the second trimester of pregnancy and at term. Maternal and fetal cotinine concentrations were evaluated in 26 women requesting surgical termination for psychosocial reasons at 12–17 weeks gestation and 26 women with uncomplicated pregnancies at 37–40 weeks gestation, and delivered vaginally. Cotinine concentrations were measured by radioimmunoassay. At 12–17 weeks, the median cotinine concentration was significantly (P = 0.009) lower in fetal than in maternal serum. At term fetal and maternal cotinine concentrations were similar. The feto–maternal ratio was significantly (P < 0.001) lower in second trimester pregnancies than in term pregnancies. In both groups, positive linear correlations were found between maternal and fetal serum cotinine concentration and between maternal serum cotinine concentration and the number of cigarettes smoked per day. These data indicate that placental cotinine transfer increases with advancing gestation. This may be secondary to increased placental permeability in the third trimester, which could be linked to progressive placental damage in heavy chronic smokers.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

In vivo investigation of placental transfer early in human pregnancy

The use of coelocentesis to study placental drug transfer in the first trimester has required the adaptation of existing pharmacologic models to the changing anatomical structures present before and after 12 weeks of gestation. The biochemical properties of the coelomic and amniotic fluids are important parameters in evaluating the pharmacokinetics of drugs and toxins in early pregnancy. In particular, the protein concentration and pH of these fluids are significantly different and vary widely with gestational age. These biochemical variations are less likely to influence the distribution of inert substances such as inulin inside the first trimester conception cavities than the distribution of drugs such as diazepam or propofol. This can explain why they are not all accumulating inside the exocoelomic cavity. It has been demonstrated that the permeability of the placenta is greater in early pregnancy than at term. Furthermore, because of the slow turn-over of the coelomic fluid, substances such as nicotine to which the mother is chronically exposed accumulate inside the exocoelomic cavity. This prolonged fetal exposure to tobacco carcinogens has important teratogenic implications and should be further explored. (C) 2000 Elsevier Science Ireland Ltd.SCOPUS: re.jinfo:eu-repo/semantics/publishe