Amaurosis fugax due to pleomorphic sarcoma

Purpose This report describes a case of amaurosis fugax due to a rare primary cardiac sarcoma. Observations A patient who was recently diagnosed with left atrial pleomorphic sarcoma presented with a chief complaint of multiple episodes of intermittent vision loss in the right eye during the course of radiation therapy. Conclusions and importance The authors postulate emboli from the left atrial sarcoma entered systemic circulation and subsequently caused brief episodes of transient occlusion to retinal, ophthalmic and/or ciliary arteries leading to momentary retinal hypoxia. We believe this is a novel finding, previously unreported in the literature, of transient embolic occlusion without permanent visual sequelae due to a malignant primary cardiac pleomorphic sarcoma

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)

BACKGROUND: To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and defects in NER complementation groups XP-A, XP-C or XP-D. RESULTS: The XP-A (XP12BE) and XP-D (XP18BE) patients exhibited progressive neurological deterioration with sensorineural hearing loss. The clinical spectrum encompassed severe cachexia in the XP-A (XP12BE) patient, numerous skin cancers in the XP-A and two XP-C (XP24BE and XP1BE) patients and only few skin cancers in the XP-D patient. Two XP-C patients developed internal neoplasms including glioblastoma in XP24BE and uterine adenocarcinoma in XP1BE. At autopsy, the brains of the 44 yr XP-A and the 45 yr XP-D patients were profoundly atrophic and characterized microscopically by diffuse neuronal loss, myelin pallor and gliosis. Unlike the XP-A patient, the XP-D patient had a thickened calvarium, and the brain showed vacuolization of the neuropil in the cerebrum, cerebellum and brainstem, and patchy Purkinje cell loss. Axonal neuropathy and chronic denervation atrophy of the skeletal muscles were observed in the XP-A patient, but not in the XP-D patient. CONCLUSIONS: These clinical manifestations and autopsy findings indicate advanced involvement of the central and peripheral nervous system. Despite similar defects in DNA repair, different clinicopathological phenotypes are seen in the four cases, and therefore distinct patterns of neurodegeneration characterize XP-D, XP-A and XP-C patients

FDG–PET. A possible prognostic factor in head and neck cancer

Previous studies have shown that high uptake of 18F-fluoro-2-deoxy-glucose in head and neck cancer, as determined by the standardized uptake value on positron emission tomography scan, was associated with poor survival. The aim of this study was to confirm the association and to establish whether a high standardized uptake value had prognostic significance. Seventy-three consecutive patients with newly diagnosed squamous cell carcinoma of the head and neck underwent a positron emission tomography study before treatment. Age, gender, performance status tumour grade, stage, maximal tumour diameter and standardized uptake value were analyzed for their possible association with survival. The median standardized uptake value for all primary tumours was 7.16 (90% range 2.30 to 18.60). In univariate survival analysis the cumulative survival was decreased as the stage, tumour diameter and standardized uptake value increased. An standardized uptake value of 10 was taken as a cut-off for high and low uptake tumours. When these two groups were compared, an standardized uptake value >10 predicted for significantly worse outcome (P=0.003). Multivariate analysis demonstrated that an standardized uptake value >10 provided prognostic information independent of the tumour stage and diameter (P=0.002). We conclude that high FDG uptake (standardized uptake value>10) on positron emission tomography is an important marker for poor outcome in primary squamous cell carcinoma of the head and neck. Standardized uptake value may be useful in distinguishing those tumours with a more aggressive biological nature and hence identifying patients that require intensive treatment protocols including hyperfractionated radiotherapy and/or chemotherapy

Tumour progression or pseudoprogression?:A review of post-treatment radiological appearances of glioblastoma

Glioblastoma (GBM) is a common brain tumour in adults, which, despite multimodality treatment, has a poor median survival. Efficacy of therapy is assessed by clinical examination and magnetic resonance imaging (MRI) features. There is now a recognised subset of treated patients with imaging features that indicate "progressive disease" according to Macdonald's criteria, but subsequently, show stabilisation or resolution without a change in treatment. In these cases of "pseudoprogression", it is believed that non-tumoural causes lead to increased contrast enhancement and conventional MRI is inadequate in distinguishing this from true tumour progression. Incorrect diagnosis is important, as failure to identify pseudoprogression could lead to an inappropriate change of effective therapy. The purpose of this review is to outline the current research into radiological assessment with MRI and molecular imaging of post-treatment GBMs, specifically the differentiation between pseudoprogression and tumour progression

Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Adenosine deaminase 2 (ADA2) is an enzyme involved in purine metabolism and a growth factor that influences the development of endothelial cells and leukocytes. This study shows that defects in ADA2 cause recurrent fevers, vascular pathologic features, and mild immunodeficiency. Patients with autoinflammatory disease sometimes present with clinical findings that encompass multiple organ systems.(1) Three unrelated children presented to the National Institutes of Health (NIH) Clinical Center with intermittent fevers, recurrent lacunar strokes, elevated levels of acute-phase reactants, livedoid rash, hepatosplenomegaly, and hypogammaglobulinemia. Collectively, these findings do not easily fit with any of the known inherited autoinflammatory diseases. Hereditary or acquired vascular disorders can have protean manifestations yet be caused by mutations in a single gene. Diseases such as the Aicardi-Goutieres syndrome,(2),(3) polypoidal choroidal vasculopathy,(4) sickle cell anemia,(5) livedoid vasculopathy,(6) and the small-vessel vasculitides(7),(8) are examples of systemic ...</p

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood

Der Artin-Defekt in der algebraischen K-Theorie

For $m\in\mathbb{Z}$ the Artin defect of a finite cyclic group $C$ in degree $m$ is defined as the cokernel of the naturally induced map $\bigoplus_{D\lneq C}K_m(\mathbb{Z} D)\otimes_{\mathbb{Z}}\mathbb{Q}\to K_m(\mathbb{Z} C)\otimes_{\mathbb{Z}}\mathbb{Q}$ where $\mathbb{Z} C$ denotes the integral group ring of $C$. We compute its dimension as a $\mathbb{Q}$-vector space and describe the natural action of the automorphism group of $C$ on the defect. The Artin defect is of importance when computing rational $K$-theory of integral group rings of any group using the Farrell-Jones conjecture. The Farrell-Jones conjecture is an approach to compute algebraic $K$-theory of group rings. It is known to be true for a large class of groups.Der Artin Defekt einer endlichen zyklischen Gruppe $C$ im Grad $m\in\mathbb{Z}$ ist definiert als der Kokern der natürlich induzierten Abbildung $\bigoplus_{D\lneq C}K_m(\mathbb{Z} D)\otimes_{\mathbb{Z}}\mathbb{Q}\to K_m(\mathbb{Z} C)\otimes_{\mathbb{Z}}\mathbb{Q}$ wobei $\mathbb{Z} C$ den ganzzahligen Gruppenring von $C$ bezeichnet. Wir berechnen die Dimension des Artin Defektes als $\mathbb{Q}$-Vektorraum und beschreiben die natürliche Wirkung der Automorphismengruppe von $C$ auf dem Defekt. Der Artin Defekt tritt bei der Berechnung der rationalen $K$-Theorie ganzzahliger Gruppenringe beliebiger Gruppen mittels der Farrell-Jones Vermutung auf. Die Farrell-Jones Vermutung ist ein Ansatz zur Berechnung der algebraischen $K$-Theorie von Gruppenringen. Sie wurde bereits für eine große Klasse von Gruppen bewiesen

Accountability management of human-based activities in collaborative computing

Providing accountability in a collaborative computer system based on human-based activity is a key challenge. The identification and definition of responsible users to ensure proper and correct data transfer demand the design of a system with a set of rules that limit misconduct and verify the correctness of actions. As individual accountability is pivotal in collaborative computing, a trustworthy system that prevents misconduct is crucial. In many distributed systems, trust is established through dependence on third parties, which requires the distribution of sensitive data and results in loss of data sovereignty. New concepts are therefore required that are not relying on trusted third parties, but ensure that misconduct in such an environment is recognized and traced back to the responsible user. With the introduction of the very first Distributed Ledger Technology (DLT) in 2008 named Bitcoin, it became possible for the first time to establish trust between peers in a peer-to-peer (P2P) network without relying on a trusted third party. Throughout this thesis project, an accountability model was implemented, ensuring that activities carried out by people are verifiable and trustworthy using a decentralized system along with the engagement of a participating collective. The generation of reliable and verifiable provenance information, based on the PROV standard, plays a key role in this implementation. Moreover, a cryptographically enforced agreement, such as a smart contract in Ethereum is utilized to achieve the ability to track the transaction chain of the involved users and thus their actions. It emerged to a reliable candidate solution for detecting misconduct and verification of the correctness of their actions. For demonstration and evaluation purposes a functional prototype was implemented that extends the SmartSociety programming framework by a working scenario.12