Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

BACKGROUND: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. RESULTS: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. CONCLUSION: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level

Capacity for the management of kidney failure in the International Society of Nephrology Africa region:Report from the 2023 ISN Global Kidney Atlas (ISN-GKHA)

The burden of chronic kidney disease (CKD) and associated risk of kidney failure are increasing in Africa. The management of people with CKD is fraught with numerous challenges because of limitations in health systems and infrastructures for care delivery. From the third iteration of the International Society of Nephrology Global Kidney Health Atlas (ISN-GKHA), we describe the status of kidney care in the ISN Africa region using the World Health Organization building blocks for health systems. We identified limited government health spending which in turn led to increased out-of-pocket costs for people with kidney disease at the point of service delivery. The healthcare workforce across Africa was sub-optimal and further challenged by the exodus of trained healthcare workers out of the continent. Medical products, technologies, and services for the management of people with non-dialysis CKD and for kidney replacement therapy (KRT) were scarce due to limitations in health infrastructure that was inequitably distributed. There were few kidney registries and advocacy groups championing kidney disease management in Africa compared to the rest of the world. Strategies for ensuring improved kidney care in Africa include focusing on CKD prevention and early detection, improving the effectiveness of the available healthcare workforce (e.g., multidisciplinary teams, task substitution, and telemedicine), augmenting kidney care financing, providing quality, up-to-date health information data, and improving the accessibility, affordability, and delivery of quality treatment (KRT or conservative kidney management) for all people living with kidney failure

Nephrology and Public Policy Committee propositions to stimulate research collaboration in adults and children in Europe

The strengths and the limitations of research activities currently present in Europe are explored in order to outline how to proceed in the near future. Epidemiological and clinical research and public policy in Europe are generally considered to be comprehensive and successful, and the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) is playing a key role in the field of nephrology research. The Nephrology and Public Policy Committee (NPPC) aims to improve the current situation and translation into public policy by planning eight research topics to be supported in the coming 5 years by ERA-EDTA.Peer reviewe

Strengthening Renal Registries and ESRD Research in Africa

CITATION: Davids, M. R., et al. 2017. Strengthening renal registries and ESRD research in Africa. Seminars in Nephrology, 37(3):211-223, doi:10.1016/j.semnephrol.2017.02.002.The original publication is available at http://www.seminarsinnephrology.orgENGLISH ABSTRACT: In Africa the combination of non-communicable diseases, infectious diseases, exposure to environmental toxins and acute kidney injury related to trauma and childbirth are driving an epidemic of chronic kidney disease (CKD) and end-stage renal disease (ESRD). Good registry data can inform the planning of renal services and can be used to argue for better resource allocation, audit the delivery and quality of care, and monitor the impact of interventions. Few African countries have established renal registries and most have failed due to resource constraints. In this paper we briefly review the burden of CKD and ESRD in Africa then consider the research questions which could be addressed by renal registries. We describe examples of the impact of registry data and summarise the sparse primary literature on country-wide renal replacement therapy (RRT) in African countries over the past 20 years. Finally, we highlight some initiatives and opportunities for strengthening research on ESRD and RRT in Africa. These include the establishment of the African Renal Registry and the availability of new areas for research. We also discuss capacity-building, collaboration, open access publication and the strengthening of local journals, all measures which may improve the quantity, visibility and impact of African research outputs.AFRIKAANSE OPSOMMING: Geen opsomming beskikbaarhttp://www.seminarsinnephrology.org/article/S0270-9295(17)30002-5/fulltextPostprin

Treatment of Adult Patients with Intestinal Failure in Finland

Severe reduction of bowel function, such that long-term parenteral support (PS) is necessary to maintain health, defines chronic intestinal failure (CIF). This rare gastroenterological condition covers a wide range of underlying diseases; thus, its onset as well as course vary greatly. The multidisciplinary treatment of CIF includes providing PS, dietary therapy, and medical and surgical interventions. Despite specialised multidisciplinary team taking care of CIF patients, difficult complications may arise from CIF and long-term PS. Overall, the CIF treatment is burdensome and expensive, both to the patient and the health care system. Data regarding CIF in Finnish adults has so far been limited. This study, Treatment of Adult Patients with Intestinal Failure in Finland (TAPIFF), aimed to fill this gap in knowledge. The specific objectives of the TAPIFF study were I) to evaluate current management of long-term PS across Finland; II a) to investigate the intestinal failure (IF) prevalence among Finnish adults; II b) to describe clinical details of Finnish adults with IF; and III) to investigate catheter-related bloodstream infection (CRBSI) rate, longitudinal changes in biochemical liver and kidney tests, and their explanatory factors. As part of the TAPIFF study, we also gathered an institutional cohort of adult IF patients in Helsinki University Hospital to especially investigate liver status with non-invasive methods. In September 2017, all Finnish health care units with the potential of longterm PS provision to adult IF patients received an electronic survey investigating the local practices of PS management. The survey also inquired whether the unit had provided long-term PS to any adult(s) during the preceding year. All units that responded they had managed at least one such patient, as well as those units which did not respond to the survey, were recontacted. Patient records of the enrolled patients were obtained. The inclusion criteria were age at least 18 years, PS duration at least 120 consecutive days, IF as the indication for PS, and the availability of patient records. Clinical data was manually collected from the hospital patient records from the start of PS (baseline) up to the latest record entry in 2017 (data collection). The statistical software was IBM SPSS statistics versions 24, 25 and 27 (IBM Corp., Armonk, NY). In study I, 71 health care professionals from 52 different units responded to the survey, resulting in an overall response rate of 47% of the invited units. The responses revealed that three out of four units had some experience in managing long-term PS. This experience was, however, very limited, because most units managed currently only 0–2 patients. Hospital-at-home services had primary responsibility for the practical administration of PS, as well as for the supply of PS equipment and admixtures. In most units, assigned teams managing patients on PS, and written protocols on the practical PS management were lacking. Study II identified 52 adult patients who fulfilled the inclusion criteria. The calculated IF prevalence in adults in 2017 was 11.7 per million (95% confidence interval 8.9–15.3). Most patients in this national cross-sectional cohort were women (69%), and the median age was 62 years (interquartile range, IQR 45– 72). Short bowel syndrome was the most frequent (73%) pathophysiological mechanism. The most frequent underlying conditions, in order of prevalence, were surgical complications, Crohn’s disease, and mesenteric ischaemia. The median duration of PS was 27.5 (IQR 11.3–57.3) months. Patients received a median of 7 (IQR 3.5–7) parenteral infusions per week with a median weekly volume of 7.3 (IQR 4.4–14) litres and a median weekly energy supply of 6100 (IQR 3900–9800) kcal. The daily volume of parenteral nutrition was 2 litres or less in 66% patients, and 15% received fluids and electrolytes only. Ten patients (19%) ceased PS treatment during 2017 after a median PS duration of 20.0 (IQR 9.0–40.3) months. Of these ten, eight were successfully weaned from PS, one lost venous access sites, and one died. The retrospective study III on the national cohort of 52 patients indicated a CRBSI rate of 1.35 per 1000 catheter days. In long-term catheters, CRBSI led to catheter removal in 73% of cases. A statistically significant median change occurred both in estimated glomerular filtration rate (eGFR; -8.5 ml/min/1.73 m2, IQR -30–7, p=0.005), and in alkaline phosphatase (26 U/l, IQR -11–95, p=0.019) during a median PS treatment time of 27.5 (IQR 11.3–57.3) months. In a multiple regression model for eGFR at data collection, strong explanatory variables were age and baseline eGFR. In conclusion, the prevalence of IF in the Finnish adult population, as well as their clinical characteristics, are in line with reports from other Western countries. Over time, as the PS continues, abnormal biochemical liver tests and decreased kidney function become more frequent findings. The incidence of CRBSI in the Finnish adult IF population well represents a rate described in nonspecialised units. The experience of clinicians managing Finnish patients on long-term PS appears limited, and, on national level, the management of these patients seems fragmented.Suolen vaikea vajaatoiminta (SVV) on harvinainen ryhmä sairauksia, joita yhdistää riittämätön nesteen ja ravinnon imeytyminen suolesta. Ravitsemustilan ja terveyden ylläpitämiseksi SVV:aa sairastava tarvitsee pysyvän keskuslaskimokatetrin kautta annettavaa suonensisäistä ravitsemushoitoa (SR). Tutkittu tieto SVV:sta suomalaisilla aikuisilla on vähäistä, mikä johti Suolen vaikeaa vajaatoimintaa sairastavien potilaiden hoito Suomessa -tutkimuksen käynnistämiseen. Terveydenhuollon yksiköille suunnatun kyselyn avulla löysimme 52 vähintään 18-vuotiasta suomalaista, jotka olivat saaneet SVV:n vuoksi SR:a vähintään 120 vrk ajan. Näin ollen SVV:n vallitsevuus Suomessa vuonna 2017 oli 11,7 tapausta miljoonaa aikuista kohti. Suurin osa näistä potilaista oli naisia, he olivat keskimäärin 62-vuotiaita ja saaneet SR:a päivittäin keskimäärin 28 kk ajan. Yleisimmät syyt SVV:n taustalla olivat kirurgiset komplikaatiot, Crohnin tauti ja suoliston verenkiertohäiriöt, ja mekanismina näiden pohjalta kehittynyt lyhytsuolioireyhtymä. Tässä kansallisessa aineistossa keskuslaskimokatetriperäisten veriviljelypositiivisten infektioiden ilmaantuvuus oli 1,35 infektiota 1000 katetripäivää kohti. Pysyvissä keskuslaskimokatetreissa todetuista infektioista 73 % johti katetrin poistoon. Pitkäaikaisen SR:n aikana potilaiden munuaistoiminta verikokein määritettynä heikkeni tilastollisesti merkitsevästi, kun taas maksa-arvoista alkalisen fosfataasin pitoisuus kasvoi. Kyselyymme pitkäaikaisen SR:n käytännöistä vastasi 71 terveydenhuollon ammattilaista 52 yksiköstä kattavasti ympäri Suomen. Kokemus pitkäaikaisen SR:n toteutuksesta oli rajallista, sillä suurin osa yksiköistä oli ajankohtaisesti vastuussa korkeintaan kahden SVV-potilaan hoidosta. Suurimmassa osassa yksiköitä ei vastausten perusteella ollut nimettyä ryhmää, joka vastaisi SVV-potilaiden hoidosta, eikä kirjallista ohjetta SR:n toteutuksesta. Tutkimuksen johtopäätökset ovat, että SVV:n vallitsevuus suomalaisessa aikuisväestössä, kuten myös potilasryhmän kliiniset piirteet, pitkittäismuutokset maksan tilaa ja munuaistoimintaa kuvaavissa verikokeissa sekä katetriperäisten infektioiden ilmaantuvuus ovat samankaltaisia kuin muista länsimaista raportoidut tulokset. Suomalaisten terveydenhuollon ammattilaisten kokemus pitkäaikaisesta SR:sta vaikuttaa vähäiseltä. Kansallisella tasolla SVV-potilaiden hoito kuvautuu hajanaisena

Research Report 2012

The NHMRC Clinical Trials Centre at the University of Sydney runs large multicentre investigator-initiated clinical trials, undertakes research with national and international trial groups, and contributes expertise to trials run by others. It also: • takes a lead in proposing new directions for clinical research in Australia, particularly research aligned with national policy and clinical practice • participates in translational research, from bench to bedside • conducts methodological research in relation to clinical trials • reviews and synthesises evidence from completed trials, and is at the forefront of developments in methods, such as prospective meta-analysis • supervises postgraduate students in all of these areas • offers postgraduate degrees in clinical trials research • runs short courses to train people for Australian medical research. The CTC also offers health technology and diagnostic test assessments, economic analyses, biostatistical design and analysis, and automated central randomisation services (IVR and IWR). Core funding is provided by the NHMRC, and specific projects are funded by government, public and private institutions and the pharmaceutical industry. The CTC is at two sites in Camperdown in inner Sydney — the Medical Foundation Building on Parramatta Road and on Mallett Street. This report covers the CTC’s achievements for 2012

The Health of Children and Young People with Chronic Conditions and Disabilities in New Zealand 2016

This report aims to assist district health boards to plan to meet current and future demands in order to improve the quality of life for children with disabilities and chronic conditions by providing: 1. Information from a range of routinely collected data on children and young people’s disability and chronic conditions, including prevalence of conditions arising in the perinatal period 2. Information about children’s and young people’s use of secondary health services 3. Evidence for good practice derived from current policies, guidelines and evidence-based interventions for each of the indicators presented The choice of indicators included in this report was informed by an indicator framework developed by the NZ Child and Youth Epidemiology Service and by recent peer-reviewed literature about chronic conditions in children and young people. Chronic conditions and disabilities often affect people for life. Having a good quality of life and flourishing to your best ability is dependent, at least in part, on what happened as you were growing up. Understanding the dimensions of chronic conditions and disabilities among children and young people is essential to planning and developing good quality health services for New Zealand’s children and young people

Confronting the growing burden of kidney disease: the sub-Saharan landscape

This report seeks to describe the status of kidney disease and renal replacement therapy in lower-resource settings, particularly sub-Saharan Africa. Acute kidney injury and transplantation are included on a limited basis because it is impossible consider the renal replacement therapy landscape at the exclusion of either. As in the rest of the developing world, chronic kidney disease and end-stage renal disease place a sizable and rapidly growing burden on sub-Saharan Africa, and Africans face a double-burden of disease from communicable and non-communicable diseases. Meanwhile, renal replacement therapy and the subspecialty of nephrology are expanding in sub-Saharan Africa, from non-existence in many countries to a limited, tentative subsistence, largely with the support of international organizations and the dedication of local nephrologists. Hemodialysis is the most common form of renal replacement therapy in sub-Saharan Africa, but peritoneal dialysis services, particularly for acute kidney injury, are growing and renal transplants are performed in a few sub-Saharan countries. Nonetheless, in the majority of sub-Saharan Africa, maintenance dialysis is still only available to the wealthy urban few. Although peritoneal dialysis may seem more feasible in the developing world than hemodialysis for multiple reasons, it is still fraught with challenges that make widespread implementation presently unadvisable. As renal replacement therapy is costly and currently unaffordable on a large scale for most of these countries, emphasis must be on identifying at-risk populations through screening and low-cost treatment or management of risk factors to mitigate chronic kidney disease

Estimating the Requirement for Chronic Kidney Disease Stage 5 (CKD5) Services in Romania

Background: Chronic kidney disease stage 5 (CKD5) with end-stage renal failure (ESRF) is not common but it is expensive to treat, despite advances in technology. Appropriate service provision requires good quality information on the population served and the services provided. In Romania this is in limited supply. Aim: To estimate current and future service needs for CKD5 in Romania. Methods: Desktop research, surveys of a sample of Romanian treatment centres, and mathematical modelling. The baseline renal replacement therapy (RRT) stock was calculated using the capture-recapture method (CRM). The reported % of cases with diabetic nephropathy was compared with the expected % based on population attributable risk (PAR%) and trends in disease precursors. The acceptance rate was estimated using the Impact Fraction method. Needs for numbers of treatment places were calculated from service activity and clinical parameters (stock, acceptance and mortality) in a spreadsheet model. Estimates were made under variant scenarios for two periods: calibration and validation (1997-2006) and projection (2007-2016). Results: In Romania in 1997, the prevalence of chronic kidney disease (CKD) stages 1 to 5 was estimated at 1,222.5 per million population (pmp). There was a strong association between CKD5 and diabetes plus hypertension (OR =7.73 [95% CI: 0.99 to 60.38]). Increasing trends in age, diabetes and hypertension suggest an increasing incidence of CKD5; but a downward trend in smoking will offset this. Reported national RRT stock in Romania was 139 pmp in 1997 and 250 pmp in 2003. The CRM suggested that the Centre Questionnaire and EDTA data covered 71% of the total stock at baseline (2,995 patients). The % of CKD5 on RRT reported to have diabetic nephropathy was 10%, much less than the PAR%-based estimate of 30.5%. Acceptance and stock varied between the 14 centres from 11 to 85 pmp, and 112 to 222 pmp respectively. In the calibration period, two of the scenarios tried gave figures for 2006 of 238 and 251, close to the observed figure of 250. (Other scenarios gave figures from 238 to 721). Projecting the two chosen scenarios to 2016 gave 239 and 276 pmp. (Other scenarios gave up to 1,940 pmp.) Conclusions: The information base for this modelling exercise was weak. However there appears to be under-provision of care for CKD5 in Romania, particularly for diabetic nephropathy