BackgroundThe aim of the study was to assess both patients’ and their parents’ knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet.MethodsThe study included 173 PKU patients aged 10–19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20.ResultsOur study demonstrated that only 45% (n = 74) of PKU patients knew daily Phe intake recommendations, 27% of patients (n = 41) knew the Phe content in a minimum of three out of four researched food products. Patients’ knowledge concerning Phe intake (p = 0.0181) and the knowledge of selected food products (p = 0.041819) improved with age. We did not establish such a correlation in the group of PKU children’s parents.Approximately 31% of patients and 22% of parents reported helplessness, which increased with the child’s age, associated with the necessity to adhere to the diet; 30% of patients reported feeling ashamed of the fact that they could not eat all food products. Regardless of age, children were more likely than parents to report helplessness (p = 0.032005).Among patients, 41.40% declared that they would wish to select products unassisted but their parents did not permit them to do so. The question of whether parents teach children self-reliance in meal preparation was answered affirmatively by 98% of parents and only 81% of children (p = 0.0001).ConclusionOur data demonstrated that parents’ and children’s knowledge concerning treatment recommendations and food products does not have a direct impact on attitude to the PKU diet. Limiting children’s independence in meal selection, growing helplessness in the face of dietary adherence and shame resulting from the necessity to follow a different diet observed in PKU families are responsible for shaping and perpetuating a consistently negative attitude to the diet. The care of PKU paediatric patients requires consistent, long-term family and individual therapy which may counteract the effects of learned helplessness. In regard to the educational effort, a good parent-child relationship as well as the teaching of behaviours motivating patients to comply with the diet are of great importance.Electronic supplementary materialThe online version of this article (doi:10.1186/s12986-017-0207-1) contains supplementary material, which is available to authorized users.

ObjectivesCancer survival and stage of disease at diagnosis and treatment vary widely across Europe. These differences may be partly due to variations in access to investigations and specialists. However, evidence to explain how different national health systems influence primary care practitioners’ (PCPs’) referral decisions is lacking.This study analyses health system factors potentially influencing PCPs’ referral decision-making when consulting with patients who may have cancer, and how these vary between European countries.DesignBased on a content-validity consensus, a list of 45 items relating to a PCP’s decisions to refer patients with potential cancer symptoms for further investigation was reduced to 20 items. An online questionnaire with the 20 items was answered by PCPs on a five-point Likert scale, indicating how much each item affected their own decision-making in patients that could have cancer. An exploratory factor analysis identified the factors underlying PCPs’ referral decision-making.SettingA primary care study; 25 participating centres in 20 European countries.Participants1830 PCPs completed the survey. The median response rate for participating centres was 20.7%.Outcome measuresThe factors derived from items related to PCPs’ referral decision-making. Mean factor scores were produced for each country, allowing comparisons.ResultsFactor analysis identified five underlying factors: PCPs’ ability to refer; degree of direct patient access to secondary care; PCPs’ perceptions of being under pressure; expectations of PCPs’ role; and extent to which PCPs believe that quality comes before cost in their health systems. These accounted for 47.4% of the observed variance between individual responses.ConclusionsFive healthcare system factors influencing PCPs’ referral decision-making in 20 European countries were identified. The factors varied considerably between European countries. Knowledge of these factors could assist development of health service policies to produce better cancer outcomes, and inform future research to compare national cancer diagnostic pathways and outcomes.

Taking into account the previously reported relationship between inflammation and carcinogenesis, and the scant amount of data concerning the role of neutrophil extracellular traps (NETs) in carcinogenesis, we decided to study the process of extracellular trap formation in patients with inflammation as well as in patients with cancer occurring in the same location. For preliminary isolation of neutrophils (PMNs), we used Polymorphprep™, then sorted with Microbeads. The cells were recorded in the incubation chamber with a BD Pathway 855 microscope system. Flow cytometric data (MPO+ neutrophils) were acquired on FACSCalibur flow cytometer. Amounts of cfDNA were determined by Abcam's Circulating DNA Quantification Kit. Neutrophils of patients with inflammation and of subjects with stage I/II oral squamous cell carcinoma (OSCC) produce increased amounts of NETs, while stage III/IV OSCC were comparable with the control group. In all of the studied groups of cells stimulation with LPS and rhIL-17 produced more NETs in relation to unstimulated cells. Neutrophil supernatant of inflammation patients and stage I/II cancer patients demonstrated the increased level of cfDNA, which decreased at stage III/IV. Patients with oral inflammations showed an increased rate of MPO+ neutrophils, which was lower than in stage I/II cancer patients and not significantly different than in Stage III/IV cancer patients and the control group. The direction of changes in NETs formation seems to be a new common element shared by inflammation and early stage cancer. Changes in the formation of NETs observed in patients with advanced cancer, other than an early phase or inflammation, indicate an alternative range of NETs involvement depending on different phases of this disease.

This study compared the antioxidant status and major lipophilic antioxidants in patients with ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS). Total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and concentrations of coenzyme Q10 (CoQ10) and vitamins A and E were estimated in the plasma of 22 patients with AT, 12 children with NBS, and the healthy controls. In AT patients, TAS (median 261.7 μmol/L) was statistically lower but TOS (496.8 μmol/L) was significantly elevated in comparison with the healthy group (312.7 μmol/L and 311.2 μmol/L, resp.). Tocopherol (0.8 μg/mL) and CoQ10 (0.1 μg/mL) were reduced in AT patients versus control (1.4 μg/mL and 0.3 μg/mL, resp.). NBS patients also displayed statistically lower TAS levels (290.3 μmol/L), while TOS (404.8 μmol/L) was comparable to the controls. We found that in NBS patients retinol concentration (0.1 μg/mL) was highly elevated and CoQ10 (0.1 μg/mL) was significantly lower in comparison with those in the healthy group. Our study confirms disturbances in redox homeostasis in AT and NBS patients and indicates a need for diagnosing oxidative stress in those cases as a potential disease biomarker. Decreased CoQ10 concentration found in NBS and AT indicates a need for possible supplementation.

BackgroundNational European cancer survival rates vary widely. Prolonged diagnostic intervals are thought to be a key factor in explaining these variations. Primary care practitioners (PCPs) frequently play a crucial role during initial cancer diagnosis; their knowledge could be used to improve the planning of more effective approaches to earlier cancer diagnosis.ObjectivesThis study sought the views of PCPs from across Europe on how they thought the timeliness of cancer diagnosis could be improved.DesignIn an online survey, a final open-ended question asked PCPs how they thought the speed of diagnosis of cancer in primary care could be improved. Thematic analysis was used to analyse the data.SettingA primary care study, with participating centres in 20 European countries.ParticipantsA total of 1352 PCPs answered the final survey question, with a median of 48 per country.ResultsThe main themes identified were: patient-related factors, including health education; care provider-related factors, including continuing medical education; improving communication and interprofessional partnership, particularly between primary and secondary care; factors relating to health system organisation and policies, including improving access to healthcare; easier primary care access to diagnostic tests; and use of information technology. Re-allocation of funding to support timely diagnosis was seen as an issue affecting all of these.ConclusionsTo achieve more timely cancer diagnosis, health systems need to facilitate earlier patient presentation through education and better access to care, have well-educated clinicians with good access to investigations and better information technology, and adequate primary care cancer diagnostic pathway funding.