Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.

Objective: The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018. Methods: Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021. Results: The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33). Conclusions: e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network. Significance statement Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project shows that a programme of e-surveillance is feasible and acceptable. The data that have been collected by the e-reporting of rare endocrine conditions (e-REC) can allow the continuous monitoring of rare conditions and may be used for clinical benchmarking, designing new studies or recruiting to clinical trials.

Supporting international networks through platforms for standardised data collection-the European Registries for Rare Endocrine Conditions (EuRRECa) model.

Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project ( www.eurreca.net ), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between patients, health care professionals and researchers across Europe and beyond. At the heart of the EuRRECa collaboration is a Core Endocrine Registry that collects a core dataset for all rare endocrine conditions that are covered within Endo-ERN. The registry incorporates patient reported markers of clinical outcome and will signpost participants to high-quality, disease-specific registries. Furthermore, an electronic surveillance programme (e-REC) captures clinical activity and epidemiology for these rare conditions. EuRRECa receives guidance compliant with the highest ethical standards from Expert Working Groups that align with the Main Thematic Groups of Endo-ERN. Security, data quality and data governance are cornerstones of this platform. Clear policies that are acceptable to patients, researchers and industry for data governance coupled with widespread dissemination and knowledge exchange through closely affiliated stakeholders will ensure sustainability beyond the current lifetime of the project. This paper describes the infrastructure that has been developed, stakeholder involvement, the data fields that are captured within the registry and details on the process for using the platform.

Personal protective equipment for surgeons during COVID-19 pandemic: systematic review of availability, usage and rationing.

BACKGROUND: Surgeons need guidance regarding appropriate personal protective equipment (PPE) during the COVID-19 pandemic based on scientific evidence rather than availability. The aim of this article is to inform surgeons of appropriate PPE requirements, and to discuss usage, availability, rationing and future solutions. METHODS: A systematic review was undertaken in accordance with PRISMA guidelines using MEDLINE, Embase and WHO COVID-19 databases. Newspaper and internet article sources were identified using Nexis. The search was complemented by bibliographic secondary linkage. The findings were analysed alongside guidelines from the WHO, Public Health England, the Royal College of Surgeons and specialty associations. RESULTS: Of a total 1329 articles identified, 95 studies met the inclusion criteria. Recommendations made by the WHO regarding the use of PPE in the COVID-19 pandemic have evolved alongside emerging evidence. Medical resources including PPE have been rapidly overwhelmed. There has been a global effort to overcome this by combining the most effective use of existing PPE with innovative strategies to produce more. Practical advice on all aspects of PPE is detailed in this systematic review. CONCLUSION: Although there is a need to balance limited supplies with staff and patient safety, this should not leave surgeons treating patients with inadequate PPE.

The current landscape of European registries for rare endocrine conditions.

Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.

Fludrocortisone-a treatment for tubulopathy post-paediatric renal transplantation: A national paediatric nephrology unit experience.

Calcineurin inhibitors post-renal transplantation are recognized to cause tubulopathies in the form of hyponatremia, hyperkalemia, and acidosis. Sodium supplementation may be required, increasing medication burden and potentially resulting in poor compliance. Fludrocortisone has been beneficial in addressing tubulopathies in adult studies, with limited paediatric data available. A retrospective review of data from an electronic renal database from December 2014 to January 2016 was carried out. Forty-seven post-transplant patients were reviewed with 23 (49%) patients on sodium chloride or bicarbonate. Nine patients, aged 8.3 years (range 4.9-16.4), commenced fludrocortisone 22 months (range 1-80) after transplant and were followed up for 9 months (range 2-20). All patients stopped sodium bicarbonate; all had a reduction or no increase in total daily doses of sodium chloride. Potassium levels were significantly lower on fludrocortisone, 5.2 vs 4.5 mmol/L, P = .04. No difference was noted in renal function (eGFR 77.8 vs 81.7 mL/min/1.73 m2 , P = .45) and no significant increase in systolic blood pressure (z-scores 0.99 vs 0.85, P = .92). No side effects secondary to treatment with fludrocortisone were reported. A significant proportion of renal transplant patients were on sodium supplementation and fludrocortisone reduced sodium supplementation without significant effects on renal function or blood pressure. Fludrocortisone appears to be safe and effective for tubulopathies in children post-transplantation.

Physical Activity Behavior Predictors, Reasons and Barriers among Male Adolescents in Riyadh, Saudi Arabia: Evidence for Obesogenic Environment.

OBJECTIVE: This study aimed to assess physical activity, socio-demographic predictors and to determine reasons for practicing and/or not practicing physical activities. METHODS: Cross-sectional study was conducted among male high school students in Riyadh, Saudi Arabia. A self-administered questionnaire was used to collect the data using stratified cluster sampling technique (N= 453 students). RESULTS: Although 36.4% of the student reported that they practiced enough exercise during their usual week days, only 15.5% of the students were found to be practicing physical activity at a recommended level (≥5 days/week). On the other hand, 20.1% of the students were found to be inactive and not practicing physical activity at any day. Among the factors that associated with adolescents physical activity, logistic regression showed that students age was associated negatively with physical activity behaviour (OR= 0.6, P <0.001). Also, logistic regression showed that students physical activity behaviour was independently associated with students perceived body weight (OR= 27, P <0.001). The main reasons for practicing physical activity were: to enhance muscle and strength (70.9%), to have fun with friend and entertainment (66%), and to improve physical appearance (53.6%), respectively. The main reported barriers inhibiting adolescents from practicing physical activity were: lack of sports facilities in the community (74%), lack of friends and peer support (59.4%) and lack of suitable public sport club in the community (54.6%). CONCLUSION: This study revealed low prevalence of physical activity among adolescents. National strategies to increase levels of physical activity and minimize obesogenic environmental factors are required.

Assessing fidelity of core components in a mindfulness and yoga intervention for urban youth: applying the CORE Process.

In the past years, the number of mindfulness-based intervention and prevention programs has increased steadily. In order to achieve the intended program outcomes, program implementers need to understand the essential and indispensable components that define a program's success. This chapter describes the complex process of identifying the core components of a mindfulness and yoga program for urban early adolescents through the systematic study of fidelity of implementation of the intervention. The authors illustrate the CORE Process [(C) Conceptualize Core Components; (O) Operationalize and measure; (R) Run analyses and Review implementation findings; and (E) Enhance and refine], based on data gained from a mindfulness and yoga intervention study conducted as a community-academic partnership in Baltimore city.

Observation of long spin-relaxation times in bilayer graphene at room temperature.

We report on the first systematic study of spin transport in bilayer graphene (BLG) as a function of mobility, minimum conductivity, charge density, and temperature. The spin-relaxation time τ(s) scales inversely with the mobility µ of BLG samples both at room temperature (RT) and at low temperature (LT). This indicates the importance of D'yakonov-Perel' spin scattering in BLG. Spin-relaxation times of up to 2 ns at RT are observed in samples with the lowest mobility. These times are an order of magnitude longer than any values previously reported for single-layer graphene (SLG). We discuss the role of intrinsic and extrinsic factors that could lead to the dominance of D'yakonov-Perel' spin scattering in BLG. In comparison to SLG, significant changes in the carrier density dependence of τ(s) are observed as a function of temperature.

Characterization of silicone breast implant biopsies by Fourier transform infrared mapping.

Fourier transform infrared (FT-IR) spectral mapping was used to study polymers in human tissue associated with silicone breast implants. Biomaterials such as polyesters, polyurethanes and silicone were identified by FT-IR spectroscopy, and their relative locations and distributions within tissue specimens were characterized by three-dimensional (3D) spectral maps.

Determination of picomole amounts of glycerate 3-phosphate, glycerate 2-phosphate, and phosphoenol pyruvate by an enzymatic assay coupled to firefly luciferase/luciferin luminescence.

A procedure for the determination of picomole amounts of glycerate 3-phosphate, glycerate 2-phosphate, and phosphoenol pyruvate is described. These metabolites were utilized by the glycolytic enzymes phosphoglycerate mutase, enolase, and pyruvate kinase to generate ATP which was determined by firefly luciferase/luciferin luminescence. The phosphoglycerate mutase used was of the glycerate 2,3-bisphosphate-independent type and was prepared from wheat germ. Stoichiometric conversion of glycerate 3-P, ranging in amount from 9 to 275 pmol, occurred after 25 min preincubation and required a narrow range of added mutase. The application of the procedure for determining these metabolites in suspensions of plant protoplasts is described.

Enzyme polymorphism in Drosophila melanogaster populations in Iraq.

Electrophoretic studies of the degree and pattern of polymorphism at two third-chromosome loci, esterase-6 (Est-6) and phosphoglucomutase (PGM), were carried out in three Drosophila melanogaster populations collected from different localities in Iraq: Mosul, Tuwaitha, and Basrah. The results show that only the Tuwaitha population was polymorphic for both loci; the other two populations were polymorphic for Est-6 and monomorphic for PGM. The allele frequency changes at both loci were followed for 20 generations in an experimental cage derived from the Tuwaitha population; it was found that there is a deviation from Hardy-Weinberg equilibrium at both loci toward the homozygote.

Immunization of sheep against Theileria hirci infection with schizonts propagated in tissue culture.

Two experiments were carried out. In the first, three groups of lambs were inoculated subcutaneously with 3 X 10(6) schizonts of different passages (3, 30 and 63) of Theileria hirci propagated in tissue culture. Severe reactions were observed in lambs inoculated with organisms derived from the 3rd passage. In the second experiment, four groups were inoculated with 5 X 10(5), 3 X 10(6), 1 X 10(7) and 5 X 10(8) schizonts of the 63rd passage. No clinical reactions or parasites were detected in lambs inoculated with 5 X 10(5) schizonts. Mild reactions were observed in lambs inoculated with 3 X 10(6), 1 X 10(7), and 5 X 10(7) schizonts. Lambs inoculated with 3 X 10(6) schizonts were resistant to challenge with a virulent strain. The indirect fluorescent antibody (IFA) test was used to determine the antibody titre.