Fuchs' Adenoma of the Choroid Simulating a Choroidal Hemangioma

We report the case of a 54-year-old female who was referred to us with an amelanotic mass on the posterior pole of the left eye involving the macula. Fundus fluorescein angiography revealed a hyperfluorescent choroidal mass. Indocyanine green chorioangiography revealed a hypofluorescent choroidal lesion with hyperfluorescent margins. B-scan ultrasonography showed a choroidal mass with moderate reflectivity. Choroidal biopsy was performed, which revealed the diagnosis of Fuchs' adenoma

Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain

PURPOSE: To employ an off‐resonance saturation method to measure the mineral‐iron pool in the postmortem brain, which is an endogenous contrast agent that can give information on cellular iron status. METHODS: An off‐resonance saturation acquisition protocol was implemented on a 7 Tesla preclinical scanner, and the contrast maps were fitted to an established analytical model. The method was validated by correlation and Bland‐Altman analysis on a ferritin‐containing phantom. Mineral‐iron maps were obtained from postmortem tissue of patients with neurological diseases characterized by brain iron accumulation, that is, Alzheimer disease, Huntington disease, and aceruloplasminemia, and validated with histology. Transverse relaxation rate and magnetic susceptibility values were used for comparison. RESULTS: In postmortem tissue, the mineral‐iron contrast colocalizes with histological iron staining in all the cases. Iron concentrations obtained via the off‐resonance saturation method are in agreement with literature. CONCLUSIONS: Off‐resonance saturation is an effective way to detect iron in gray matter structures and partially mitigate for the presence of myelin. If a reference region with little iron is available in the tissue, the method can produce quantitative iron maps. This method is applicable in the study of diseases characterized by brain iron accumulation and can complement existing iron‐sensitive parametric methods

A posteriori correction of camera characteristics from large image data sets

Large datasets are emerging in many fields of image processing including: electron microscopy, light microscopy, medical X-ray imaging, astronomy, etc. Novel computer-controlled instrumentation facilitates the collection of very large datasets containing thousands of individual digital images. In single-particle cryogenic electron microscopy (“cryo-EM”), for example, large datasets are required for achieving quasi-atomic resolution structures of biological complexes. Based on the collected data alone, large datasets allow us to precisely determine the statistical properties of the imaging sensor on a pixel-by-pixel basis, independent of any “a priori” normalization routinely applied to the raw image data during collection (“flat field correction”). Our straightforward “a posteriori” correction yields clean linear images as can be verified by Fourier Ring Correlation (FRC), illustrating the statistical independence of the corrected images over all spatial frequencies. The image sensor characteristics can also be measured continuously and used for correcting upcoming images

Study protocol: effect of infection, Modic and inflammation on clinical outcomes in surgery for radiculopathy (EIMICOR)

Background: Evidence indicates that inflammatory processes are involved in radicular pain as well as in resorption of herniated disc tissue. Furthermore there are indications that the presence of vertebral end plate pathology (Modic changes; MC) is associated with a negative effect on inflammation. It is hypothesized that in patients with MC, the (possibly bacterial induced) inflammation will be accompanied by pro inflammatory cytokines that worsen the outcome, and that in patients without MC, the inflammation is accompanied by cytokines that induce a resorption process to accelerate recovery.Methods: This prospective cohort study will include 160 lumbar and 160 cervical patients (total of 320), which are scheduled for surgery for either a lumbar or cervical herniated disc with ages between 18 and 75. The main and interaction effects of local bacterial infection (culture), inflammatory cells in disc material (immunohistology), MC (MRI), and blood biomarkers indicating inflammation or infection (blood sample evaluation) will be evaluated. Clinical parameters to be evaluated are leg pain on the 11 point NRS pain scale, Oswestry (lumbar spine) or Neck (cervical spine) Disability Index, Global Perceived Recovery, Womac Questionnaire, and medication status, at baseline, and after 6, 16, 26 and 52 weeks.Discussion: Gaining insight in the aetiology of pain and discomfort in radiculopathy caused by a herniated disc could lead to more effective management of patients. If the type of inflammatory cells shows to be of major influence on the rate of recovery, new immunomodulating treatment strategies can be developed to decrease the duration and intensity of symptoms. Moreover, identifying a beneficial inflammatory response in the disc through a biomarker in blood could lead to early identification of patients whose herniations will resorb spontaneously versus those that require surgery.OV

Vooronderzoek Wierdense Veld : Eindrapportage mei 2005

In dit eindrapport van het vooronderzoek Wierdense Veld worden eerst de belangrijkste resultaten van de afzonderlijke onderdelen besproken (Hoofdstuk 2 tot en met 6). In hoofdstuk 2 komt de regionaal-hydrologische situatie van het Wierdense Veld aan de orde en in hoofdstuk 3 de interne hydrologie van het Wierdense Veld. Het hydrochemisch onderzoek staat beschreven in hoofdstuk 4 en de vegetatiekarterting in hoofdstuk 5. De watermacrofauna komt aan de orde in hoofdstuk 6. Hoofdstuk 7 bevat de aanbevelingen voor herstelmaatregelen en een voorstel voor de monitoring van de maatregelen staat beschreven in hoofdstuk 8

Onderzoek ten behoeve van herstel en beheer van Nederlandse hoogvenen: eindrapportage 1998-2001

Eindrapport (1998-2001) van het onderzoeksprogramma OBN hoogvenen. In 1998 is dit project, getiteld ‘Onderzoek ten behoeve van herstel en beheer van Nederlandse hoogvenen’, gestart. Het onderzoek werd uitgevoerd door een consortium gevormd door de Katholieke Universiteit Nijmegen (leerstoelgroep Aquatische Ecologie en Milieubiologie en afdeling Dierecologie), Wageningen Universiteit (leerstoelgroep Natuurbeheer en Plantenecologie & leerstoelgroep Waterhuishouding), Stichting Bargerveen en het Nederlands Instituut voor Toegepaste Natuurwetenschappen (NITG-TNO). Het project werd uitgevoerd in opdracht van het Expertisecentrum LNV (EC-LNV) van het ministerie van Landbouw, Natuurbeheer en Visserij. In deze voorlopige eindrapportage worden de belangrijkste resultaten gepresenteerd van het onderzoeksprogramma

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next-generation sequencing. In the first family, we identified compound heterozygous LOF variants in LDB3 in a fetus with bilateral talipes and mild left cardiac ventricular enlargement. Ultra-structural examination revealed highly irregular Z-disc formation, and RNA analysis demonstrated little/no expression of LDB3 protein with a functional C-terminal LIM domain in muscle tissue from the affected fetus. In a second family, a homozygous LDB3 nonsense variant was identified in a young girl with severe early-onset dilated cardiomyopathy with left ventricular non-compaction; the same homozygous nonsense variant was identified in a third unrelated female infant with dilated cardiomyopathy. We further identified homozygous LDB3 frameshift variants in two unrelated probands diagnosed with cardiomegaly and severely reduced left ventricular ejection fraction. Our findings demonstrate that recessive LDB3 variants can lead to an early-onset severe human phenotype of cardiomyopathy and myopathy, reminiscent of the knockout mouse phenotype, and supporting a loss of function mechanism