e-meducation.org: an open access medical education web portal

<p>Abstract</p> <p>Background</p> <p>Internet can serve in opening the door to a brand new world of high quality medical information. However, the chaotic size of data available in the WWW is often misleading. We sought to provide the world medical community with a web portal that may be used as a clearinghouse providing the outlet for dissemination of high quality WWW educational products.</p> <p>Methods</p> <p>Directories of the relevant WWW resources have been compiled and others are being currently under development to cover most medical fields. A custom-built medical search engine was created. Really Simple Syndication (RSS) feeds and video sharing services were reviewed for their quality and were presented along with case-based educational presentations through a user-friendly web portal interface. A directory of guidelines database is currently under development.</p> <p>Results</p> <p>The educational portal "e-meducation" available at <url>http://www.e-meducation.org/</url> has been launched in December 2006 and at the moment, provides links to more than 800 educational web-pages, more than 2100 clinical practice guidelines, 32 news feeds, and 14 educational videos. The web site also hosts 40 case-based presentations and a custom medical search engine.</p> <p>Conclusion</p> <p>Based on the incorporation of simple and tested educational strategies such as case based instruction and interactive learning, e-meducation.org aims to become a prototype platform that offers a more convenient interface to existing products, resources and medical contents.</p

Ocular manifestations of IgG4-related disease in children. More common than anticipated? Review of the literature and case report

IgG4-related disease (IgG4-RD) is an entity with various clinical manifestations. Histopathologically, it is characterized by lymphoplasmacytic infiltrates enriched in IgG4 (+) plasmacytes and usually fibrosis of the affected tissue. Most of the patients have also increased IgG4 serum levels and they respond to glucocorticosteroids. In children, due to its rare occurrence, IgG4-RD is ill defined. From the published studies, so far, it appears that ocular manifestations are very common in the paediatric population with IgG4-RD. Herein, we describe a new case of a child with IgG4-RD with ocular involvement manifested with orbit and eyelid swelling, successfully treated with steroids. In addition, we review the clinical, laboratory, histopathologic and radiologic characteristics of the published paediatric cases with IgG4-RD and ocular involvement, critically comparing them with the characteristics of the adult population. It seems that ocular manifestations are more frequently observed in children than in adults. Also, the pattern of involvement is different, with extraocular muscles and soft tissues being more commonly affected than the lacrimal glands

Molecular cloning and characterization of the human RNase κ, an ortholog of Cc RNase

A novel protein family, designated hereafter as RNase κ (kappa) family, has been recently introduced with the characterization of the specific Cc RNase, isolated from the insect Ceratitis capitata. The human ortholog of this family consists of 98 amino acids and shares > 98% identity with its mammalian counterparts. This RNase is encoded by a single-copy gene found to be expressed in a wide spectrum of normal and cancer tissues. The cDNA of the human ribonuclease has been isolated and subcloned into a variety of prokaryotic expression vectors, but most efforts to express it caused a severe toxic effect. On the other hand, the expression of the human RNase by the use of the methylotrophic yeast Pichia pastoris system resulted in the production of a highly active recombinant enzyme. Using a 30-mer 5′-end-labeled RNA probe as substrate, the purified enzyme seems to preferentially cleave ApU and ApG phosphodiester bonds, while it hydrolyzes UpU bonds at a lower rate. Based on amino acid sequence alignment and substrate specificity data, as well as the complete resistance of the recombinant protein to the placental ribonuclease inhibitor, we concluded that the human RNase κ is a novel endoribonuclease distinct from other known ribonucleases

Malignant triton tumour of the anterior mediastinum as incidental finding

A rare case of malignant peripheral nerve sheath tumour with rhabdomyoblastic differentiation (malignant triton tumour) of the anterior mediastinum in a 30-yearold male is reported. The tumour was an incidental finding during the diagnostic work-up following a motor vehicle accident. The patient underwent median sternotomy with a tumour resection performed. Local relapse was suspected one month later, as per the chest CT-scan, and post-operative chemoradiation was applied, which produced a response. Twelve months later the patient is doing well while radiological findings remain invariable. Localization of a triton tumour in the anterior mediastinum is extremely rare, adjuvant treatment is necessary, recurrence frequently occurs and the prognosis is dismal

Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk

Despite significant progress by genome-wide association studies, the ability of genetic variants to conduce to the prediction or prognosis of type-2 diabetes (T2D) is weak. Expression analysis of the corresponding genes may suggest possible links between single-nucleotide polymorphisms and T2D phenotype and/or risk. Herein, we investigated the expression patterns of 24 T2D-susceptibility genes, and their individual transcript variants (tv), in peripheral blood of T2D patients and controls (CTs), applying RNA-seq and real-time qPCR methodologies, and explore possible associations with disease features. Our data revealed the deregulation of certain transcripts in T2D patients. Among them, the down-regulation of CAPN10 tv3 was confirmed as an independent predictor for T2D. In patients, increased expression of CDK5 tv2, CDKN2A tv3 or THADA tv5 correlated positively with serum insulin levels, of CDK5 tv1 positively with % HbA1c levels, while in controls, elevated levels of TSPAN8 were associated positively with the presence of T2D family history. Herein, a T2D-specific expression profile of specific transcripts of disease-susceptibility genes is for the first time described in human peripheral blood. Large-scale studies are needed to evaluate the potential of these molecules to serve as disease biomarkers

Late-onset psoriatic arthritis: are there any distinct characteristics? A retrospective cohort data analysis

As life expectancy increases, psoriatic arthritis (PsA) in older individuals becomes more prevalent. We explored whether late-onset versus earlier-onset PsA patients display different clinical features at diagnosis and/or during the disease course, as well as different treatment approaches and comorbidity profiles. We retrospectively collected data from consecutive PsA patients attending two rheumatology centers (December 2017–December 2022). Late-onset PsA patients (diagnosis-age: ≥60 years) were compared to those diagnosed before 60 years old. Univariate analyses and logistic regression were performed to examine for factors associated with late-onset PsA. For sensitivity analyses, the cohort’s mean diagnosis age was used as the cut-off value. Overall, 281 PsA patients were included (mean ± SD diagnosis-age: 46.0 ± 13.3 years). Of them, 14.2% (N = 40) had late-onset PsA. At diagnosis, after controlling for confounders, no demographic and clinical differences were identified. During the disease course, the late-onset group exhibited 65% fewer odds of manifesting enthesitis (adjusted Odds-ratio—adOR 0.35; 95% confidence interval 0.13–0.97), but higher frequency of dyslipidemia (adOR 3.01; 1.30–6.95) and of major adverse cardiovascular events (adOR 4.30; 1.42–12.98) compared to earlier-onset PsA group. No differences were found in the treatment approaches. In sensitivity analyses, PsA patients diagnosed after 46 (vs. ≤46) years old had an increased frequency of hypertension (adOR 3.18; 1.70–5.94) and dyslipidemia (adOR 2.17; 1.25–3.74). The present study underpins that late-onset PsA is not uncommon, while the age at PsA onset may affect the longitudinal clinical expression of the disease. Patients with late-onset PsA were less likely to manifest enthesitis but displayed increased cardiovascular risk

Optimization and deployment of CNNs at the Edge: The ALOHA experience

Deep learning (DL) algorithms have already proved their effectiveness on a wide variety of application domains, including speech recognition, natural language processing, and image classification. To foster their pervasive adoption in applications where low latency, privacy issues and data bandwidth are paramount, the current trend is to perform inference tasks at the edge. This requires deployment of DL algorithms on low-energy and resource-constrained computing nodes, often heterogenous and parallel, that are usually more complex to program and to manage without adequate support and experience. In this paper, we present ALOHA, an integrated tool flow that tries to facilitate the design of DL applications and their porting on embedded heterogenous architectures. The proposed tool flow aims at automating different design steps and reducing development costs. ALOHA considers hardware-related variables and security, power efficiency, and adaptivity aspects during the whole development process, from pre-training hyperparameter optimization and algorithm configuration to deployment

Type-I interferon pathway and DNA damage accumulation in peripheral blood of patients with psoriatic arthritis

ObjectivesThe abnormal DNA damage response is associated with upregulation of the type-1 interferon (IFN-I) pathway in certain rheumatic diseases. We investigated whether such aberrant mechanisms operate in psoriatic arthritis (PsA).MethodsDNA damage levels were measured by alkaline comet assay in peripheral blood mononuclear cells from 52 PsA patients and age-sex-matched healthy individuals. RNA expression of IFIT1, MX1 and IFI44, which are selectively induced by IFN-I, was quantitated by real-time polymerase chain reaction and their composite normalized expression resulted in IFN-I score calculation. RNA expression of IL1β, IL6, TNF, IL17A and IL23A was also assessed in PsA and control subgroups.ResultsIn PsA, DNA damage accumulation was increased by almost two-fold compared to healthy individuals (olive tail moment arbitrary units, mean ± SD; 9.42 ± 2.71 vs 4.88 ± 1.98, p&lt;0.0001). DNA damage levels significantly correlated with serum C-Reactive-protein and IL6 RNA expression in PBMCs. Despite increased DNA damage, the IFN-I score was strikingly lower in PsA patients compared to controls (-0.49 ± 6.99 vs 4.24 ± 4.26; p&lt;0.0001). No correlation was found between IFN-I pathway downregulation and DNA damage. However, the IFN-I score in a PsA subgroup was lower in those patients with higher IL1β expression, as well as in those with higher TNF/IL23A PBMCs expression.ConclusionDNA damage in PsA correlates with measures of inflammation but is not associated with the IFN-I pathway induction. The unexpected IFN-I downregulation, albeit reminiscent to findings in experimental models of spondyloarthritis, may be implicated in PsA pathogenesis and explained by operation of other cytokines