European Guidelines on Pericardial Diseases: a Focused Review of Novel Aspects.

Pericardial diseases are not uncommon in daily clinical practice. The spectrum of these syndromes includes acute and chronic pericarditis, pericardial effusion, constrictive pericarditis, congenital defects, and neoplasms. The extent of the high-quality evidence on pericardial diseases has expanded significantly since the first international guidelines on pericardial disease management were published by the European Society of Cardiology in 2004.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein.

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases.

In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures. We also provide practical hints to identify subsets of the DCM syndrome where aetiology directed management has great clinical relevance.

Modeling the Transitions between Collective and Solitary Migration Phenotypes in Cancer Metastasis.

Cellular plasticity during cancer metastasis is a major clinical challenge. Two key cellular plasticity mechanisms -Epithelial-to-Mesenchymal Transition (EMT) and Mesenchymal-to-Amoeboid Transition (MAT) - have been carefully investigated individually, yet a comprehensive understanding of their interconnections remains elusive. Previously, we have modeled the dynamics of the core regulatory circuits for both EMT (miR-200/ZEB/miR-34/SNAIL) and MAT (Rac1/RhoA).

Rarity of adenomatous polyps in ulcerative colitis and its implications for colonic carcinogenesis.

Background And Study Aims: Despite ample research on the dysplasia to carcinoma risk in ulcerative colitis, there are scant data on the prevalence of adenomatous polyps in this population.

Methods: The number and histology of all polyps detected at colonoscopies of ulcerative colitis patients aged > 50 during 2006 - 2012 were compared with similarly aged controls undergoing screening colonoscopy.

Results: There were 206 patients with ulcerative colitis and 624 controls included in the study (mean age 61.

A prospective, randomized, three arm, open label study comparing the safety and efficacy of PP110, a novel treatment for hemorrhoids to preparation-H® maximum strength cream in the treatment of grade 2-3 hemorrhoids.

Background: Hemorrhoids are a common disorder that affects the quality of life of millions of people worldwide. The effectiveness of OTC medication is limited and they mainly provide symptomatic relief. In order to treat this ailment, we formulated PP110 Gel and Wipes, as a novel treatment for hemorrhoids.

Codeine should not be prescribed for breastfeeding mothers or children under the age of 12.

Unlabelled: Medical regulatory authorities, including the Food and Drug Administration and European Medicine Agency, have published restrictions regarding the use of codeine in paediatric patients and breastfeeding mothers. This review explored the various parameters that are involved in the metabolism and toxicology of codeine in these two populations.

Conclusion: The growing volume of data on potential serious adverse events and questionable efficacy indicates that codeine should not be prescribed for children under 12 years of age and breastfeeding mothers.

Fumarate induces redox-dependent senescence by modifying glutathione metabolism.

Mutations in the tricarboxylic acid (TCA) cycle enzyme fumarate hydratase (FH) are associated with a highly malignant form of renal cancer. We combined analytical chemistry and metabolic computational modelling to investigate the metabolic implications of FH loss in immortalized and primary mouse kidney cells. Here, we show that the accumulation of fumarate caused by the inactivation of FH leads to oxidative stress that is mediated by the formation of succinicGSH, a covalent adduct between fumarate and glutathione.

The laboratory profile in idiopathic intracranial hypertension.

While overweight and female gender play an undisputable role in the pathogenesis of idiopathic intracranial hypertension (IIH), the contribution of other factors is still unclear. We have evaluated the laboratory findings of patients with IIH in an attempt to find the influence of abnormalities on the disease course. Included were 82 females after menarche and males older than 18 years who were followed up for at least 1 year.

Integrating transcriptomics with metabolic modeling predicts biomarkers and drug targets for Alzheimer's disease.

Accumulating evidence links numerous abnormalities in cerebral metabolism with the progression of Alzheimer's disease (AD), beginning in its early stages. Here, we integrate transcriptomic data from AD patients with a genome-scale computational human metabolic model to characterize the altered metabolism in AD, and employ state-of-the-art metabolic modelling methods to predict metabolic biomarkers and drug targets in AD. The metabolic descriptions derived are first tested and validated on a large scale versus existing AD proteomics and metabolomics data.

Plasma rich in growth factors (PRGF) as a treatment for high ankle sprain in elite athletes: a randomized control trial.

Purpose: Syndesmotic sprains are uncommon injuries that require prolonged recovery. The influence of ultrasound-guided injections of platelet-rich plasma (PRP) into the injured antero-inferior tibio-fibular ligaments (AITFL) in athletes on return to play (RTP) and dynamic stability was studied.

Methods: Sixteen elite athletes with AITFL tears were randomized to a treatment group receiving injections of PRP or to a control group.

Endoscopy in inflammatory bowel disease.

Small bowel imaging and endoscopy in inflammatory bowel disease (IBD) underwent a lot of change and advancement in the recent years. Modalities have shifted from gastroscopy, colonoscopy and small bowel follow through, to ileo-colonoscopy, computed tomography (CT) or magnetic resonance (MR), enteroscopy, wireless video capsule endoscopy and balloon assisted enteroscopy. Nowadays endoscopy has a major role in the diagnosis of IBD, assessing its extent, treating some of its complications (stricture, bleeding), assessing the success of various treatments (mucosal healing), and as a predictor of disease course.

Percutaneous Posterolateral Transforaminal Endoscopic Discectomy: Clinical Outcome, Complications, and Learning Curve Evaluation.

Ongoing technological development combined with better understanding of endoscopic anatomy has made posterolateral endoscopic discectomy an appealing surgical option for the management of herniated lumbar disc. We evaluated clinical outcomes, complication rates, and surgical learning curve with the percutaneous posterolateral transforaminal endoscopic discectomy technique (PPTED). PPTED was performed on 150 patients from 2004 to 2008.

Quadricuspid aortic valve defined by echocardiography and cardiac computed tomography.

A 54 year old female presented with lower extremity edema, fatigue, and shortness of breath with physical findings indicative of advanced aortic insufficiency. Echocardiography showed severe aortic regurgitation and a probable quadricuspid aortic valve. In anticipation of aortic valve replacement, cardiac computed tomography (Cardiac CT) was performed using 100 kV, 420 mA which resulted in 6 mSv of radiation exposure.

Characterization of multiple sclerosis traits: nuclear receptors (NR) impaired apoptosis pathway and the role of 1-α 25-dihydroxyvitamin D3.

Low expression of NR4A gene family members (NR4A1, NR4A3) and 1-alpha, 25-dihydroxyvitamin D(3) receptor (VDR) genes was demonstrated in peripheral blood mononuclear cells (PBMC) of subjects evaluated during the pre-disease state of multiple sclerosis (MS-to-be, MS2b), in patients with clinically isolated syndrome (CIS) during the very early presentation of neurological symptomatology and in relapsing-remitting MS (RRMS) patients. Both NR4A1 and NR4A3 are known to be involved in T-cell receptor-induced apoptosis and are regulated by VDR. We further evaluated the precise implications of apoptosis signaling regulators in relation to MS pathogenesis at the cellular level by studying the effects of 1-alpha, 25-dihydroxyvitamin D(3) (Vit D(3)) upon NR4A1 expression.

Bezafibrate treatment of primary biliary cirrhosis following incomplete response to ursodeoxycholic acid.

Background And Goals: Ursodeoxycholic acid (UDCA) is the only current pharmacologic treatment for primary biliary cirrhosis (PBC). However, some patients show persistent liver biochemical abnormalities even after 6 to 12 months treatment. Bezafibrate retard is a commonly used medication for hyperlipidemia.

Placental findings contributing to fetal death, a study of 120 stillbirths between 23 and 40 weeks gestation.

Background: Intrauterine fetal death is an agonizing, often unpredictable event. Autopsies of stillborn fetuses, including placentas, are performed to clarify the cause of death. Autopsy results are not always easily understood by the patients or their healthcare providers.