Gouty arthritis of the spine in a renal transplant patient : a clinical case report: an unusual presentation of a common disease

Axial gout is a well-documented but uncommon manifestation of gout. Its mimicking nature and the impracticality of axial joint aspiration might considerably delay its diagnosis. We report a case in a normouricemic renal transplant recipient, whereby the primary symptom of severe neck pain suggested pyogenic spondylodiscitis as an initial tentative diagnosis. Clinical findings included a high C-reactive protein concentration and elevated body temperature. The patient did not respond to empiric antibiotic treatment and suffered consecutive attacks of severe wrist and ankle pain in conjunction with a persistent fever. Blood and joint cultures were negative, but analysis of aspirated ankle joint fluid revealed monosodium urate crystals. A dual-energy computed tomography scan confirmed the presence of monosodium urate crystals in the costovertebral joints. Colchicine treatment dramatically improved the patient's clinical condition. Axial gout should be considered in transplant recipients with severe neck or back pain, fever, and increased inflammatory parameters with a high likelihood of an infectious etiology, despite the presence of paradoxically normal or even decreased serum urate concentrations. Dual-energy computed tomography is a noninvasive technique of possible benefit in the detection of axial gout when joint fluid aspiration is not deemed safe

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected patients also exhibit a decreased ability to sweat. Later in life, FD results in left ventricular hypertrophy, proteinuria, renal failure and stroke. These later disease manifestations are non-specific and also common in diabetes, hypertension and atheromatosis and thus for most practitioners do not point into the direction of FD. As a consequence, FD is under-diagnosed and screening of high-risk groups is important for case finding, as is a thorough pedigree analysis of affected patients. In the nephrology clinic, we suggest to screen patients for FD when there is unexplained chronic kidney disease in males younger than 50 years and females of any age. In men, this can be performed by measuring α-galactosidase A activity in plasma, white blood cells or dried blood spots. In women, mutation analysis is necessary, as enzyme measurement alone could miss over one-third of female Fabry patients. A multidisciplinary team should closely monitor all known Fabry patients, with the nephrologist screening kidney impairment (glomerular filtration rate and proteinuria) on a regular basis. Transplanted Fabry patients have a higher mortality than the regular transplant population, but have acceptable outcomes, compared with Fabry patients remaining on dialysis. It is unclear whether enzyme replacement therapy (ERT) prevents deterioration of kidney function. In view of the lack of compelling evidence for ERT, and the low likelihood that a sufficiently powered randomized controlled trial on this topic will be performed, data of all patients with FD should be collected in a central registr

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Danny Keijers, Bert Tops en Wim De Baere De verdwenen kerk van Zelem. [The \u27lost \u27 church of Zelem.]Tot in de 17de eeuw bevond zich net voorbij het Limburgse dorpje Zelem, langsheen de huidige E314 autostrade, een mysterieus middeleeuws kerkje. Op vraag van de Vlaamse overheid startte studiebureau RAAP er een waarderend archeologisch onderzoek in combinatie met een zoektocht in verschillende archieven. Een schat aan nieuwe informatie was het resultaat. Op 6 november 2014 werd deze voormalige gewijde grond zelfs wettelijk beschermd. Danny Keijers, Bert Tops en Wim De Baere schetsen het ontstaan en het verval van deze oudste dorpsparochie van Zelem, nu een beschermde archeologische site.Caroline Terryn De Lievebermen in Damme. Getuigen van de grootschalige onteigening voor het Lievekanaal in de 13de eeuw. [The banks of the Lieve in Damme. Relics of a large-scale expropriation for the Lieve-canal during the 13th century.]In de 13de eeuw floreerde Gent als handelsstad. Het Lievekanaal, een grootschalig project dat gepaard ging met enorme infrastructuurwerken, vormde een 46,5 km lange tolvrije uitweg naar zee die eindigde in de overslaghaven Damme. Dat slechts de helft van het kanaal binnen de Gentse Oudburg lag en de andere helft buiten haar invloedssfeer, in het Brugse Vrije, doet vermoeden dat ook politieke motieven een rol speelden bij de aanleg. In het huidige landschap zijn de jaagpaden en een deel van de Lievebermen nog zichtbare en unieke getuigen van dit middeleeuwse kanaal. In deze bijdrage pleit Caroline Terryn dan ook voor verder onderzoek, waardering en bescherming.Dieter Nuytten Bouwgeschiedenis en restauratie van het Leuvense jezuïetencollege, later het veteranencollege. [Building history and restoration of the Leuven Jesuit College, the Collegium Veteranorum.]Elke bezoeker aan de Leuvense universiteitsstad wordt onmiddellijk geconfronteerd met de veelheid aan collegegebouwen. Minder bekend is het Collegium Veteranorum, oorspronkelijk gebouwd als het oudste jezuïetencollege in de voormalige Nederlanden. Dieter Nuytten beschrijft de woelige gebruiksgeschiedenis van de gebouwen, met talrijke afbraken en verbouwingen, tot aan de huidige restauratie en (alweer) herbestemming van de gebouwenvleugels van het Collegium Veteranorum, het enige overblijfsel van een eertijds veel groter complex. Vooral de constructieve elementen zoals voor- en achtergevels en enkele latere interieurelementen kregen tijdens deze restauratiecampagne hun noodzakelijke herwaardering.Edith Willekens Eclectische monumenten op papier vereeuwigd: de publicatie Parallèle des maisons de Bruxelles van Auguste Castermans. [Eclectic paper monuments perpetuated: the publication Parallèle des maisons de Bruxelles by Auguste Castermans.]De Luikse architect Auguste Castermans publiceerde in het midden van de 19de eeuw een platenalbum met voorbeelden van eclectische architectuur, bedoeld als inspiratiebron voor ontwerpers en opdrachtgevers, die de platen onderling konden vergelijken. Omdat deze publicatie nooit eerder uitvoerig onderzocht werd, nam Edith Willekens deze taak op zich en kon ze aantonen dat de Parrallèle des maisons de Bruxelles et des principales villes de la Belgique niet minder dan Castermans levenswerk was, zijn persoonlijk pleidooi voor het gebruik van deze eclectische bouwstijl in een periode van voortschrijdende commercialisering.Summar

Using terrestrial laser scanning to constrain forest ecosystem structure and functions in the Ecosystem Demography model (ED2.2)

Terrestrial biosphere models (TBMs) are invaluable tools for studying plant-atmosphere interactions at multiple spatial and temporal scales, as well as how global change impacts ecosystems. Yet, TBM projections suffer from large uncertainties that limit their usefulness. Forest structure drives a significant part of TBM uncertainty as it regulates key processes such as the transfer of carbon, energy, and water between the land and the atmosphere, but it remains challenging to observe and reliably represent. The poor representation of forest structure in TBMs might actually result in simulations that reproduce observed land fluxes but fail to capture carbon pools, forest composition, and demography. Recent advances in terrestrial laser scanning (TLS) offer new opportunities to capture the three-dimensional structure of the ecosystem and to transfer this information to TBMs in order to increase their accuracy. In this study, we quantified the impacts of prescribing initial conditions (tree size distribution), constraining key model parameters with observations, as well as imposing structural observations of individual trees (namely tree height, leaf area, woody biomass, and crown area) derived from TLS on the state-of-the-art Ecosystem Demography model (ED2.2) of a temperate forest site (Wytham Woods, UK). We assessed the relative contributions of initial conditions, model structure, and parameters to the overall output uncertainty by running ensemble simulations with multiple model configurations. We show that forest demography and ecosystem functions as modelled by ED2.2 are sensitive to the imposed initial state, the model parameters, and the choice of key model processes. In particular, we show that: Parameter uncertainty drove the overall model uncertainty, with a mean contribution of 63 % to the overall variance of simulated gross primary production. Model uncertainty in the gross primary production was reduced fourfold when both TLS and trait data were integrated into the model configuration. Land fluxes and ecosystem composition could be simultaneously and accurately simulated with physically realistic parameters when appropriate constraints were applied to critical parameters and processes. We conclude that integrating TLS data can inform TBMs of the most adequate model structure, constrain critical parameters, and prescribe representative initial conditions. Our study also confirms the need for simultaneous observations of plant traits, structure, and state variables if we seek to improve the robustness of TBMs and reduce their overall uncertainties.Peer reviewe

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD.A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with ≥75% agreement and no disagreement.For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of ≥16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m(2)) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped.The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.Ministry of Health (ZonMw

Chronic intestinal pseudo-obstruction due to beta 2microglobulin-amyloidosis in a patient on high-flux haemodialysis

Dialysis-related amyloidosis (DRA) or beta 2microglobulin (beta 2m)-amyloidosis is a disorder caused by the inability to clear a protein called beta 2m in patients with chronic kidney disease. It results in deposition of beta 2m as amyloid fibrils, most commonly in bones and joints. Infrequently, visceral organs may be involved. With modern high-flux haemodialysis, DRA has become a rare disease, yet it may occur. We present a case of DRA in an 86-year-old woman. This case is particularly notable for its rare presentation as chronic intestinal pseudo-obstruction. It is of paramount importance to recognise this entity in order to reduce delay in treatment and avoid patients being frustrated not getting a diagnosis

The Characteristic Eye Movement Disorder of RFC1-Linked CANVAS

status: publishe

Future perspectives of genome-scale sequencing

Introduction: In recent decades, we witnessed a revolution in genetic technology. Some 20 years ago, analysing a single gene was quite laborious and time-consuming. In addition, diagnostic testing was only available for selected genes. Nowadays, whole exome analysis - a technique enabling sequencing of all protein coding sequences in the entire genome - is gradually introduced in a clinical setting. Whole genome sequencing forms the ultimate exponent of this evolution and offers an even broader application. Methods: A review of the application of these technologies in a diagnostic setting is presented. Results: Whole exome sequencing has a prominent place in modern clinical diagnostics. It offers a cost-and time-efficient way to interrogate all protein coding portions of the genome leading to a quick and adequate diagnosis, also in cases of phenotypic heterogeneity. As sequencing costs continue to drop, whole genome sequencing will take over in the near future guaranteeing a further improvement of the quality of genetic testing. Conclusion: Due to technological advances in the past decades, the field of clinical diagnostics has changed dramatically. With techniques such as whole exome and whole genome sequencing, the diagnostic yield increases serving both the patient and the health care system