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The Retinitis pigmentosa (RP) is an inherited heterogeneous ocular disorder characterized by progressive retinal degeneration. Although at least 50 genes are known to be causative of RP, many others are still unidentified. We describe a Sicilian female patient affected by an unknown form of RP. She was screened by Whole Genome Sequencing, and the subsequent variant analysis was integrated with filtering and pathway analysis and enrichment. Finally, the relevant variants were analyzed in silico to establish their potential effects. Based on previous analyses, 15 intronic variants, distributed across 6 genes (EYS, PPEF2, RNF144B, RDH13, FLT3 and MYO7A), were selected as potential candidates for disease association. Finally, the consequent in silico analysis highlighted their possible role in splicing alterations. The involvement of these genes in the pathogenesis of RP and the newly discovered role of splicing alteration events may offer new insights into the diagnosis of unknown forms of retinitis pigmentosa.

The Wrist fractures are one of the most frequent traumatic pathologies. Surgery is now more commonly recommended for this type of fracture as a means to improve the outcome of patients. The objective of this study is to compare treatment with volar plate vs. external fixation in these types of fractures. A total of 158 consecutive patients who had been operated on for distal radius fractures with or without ulnar involvement, were included in this study. 109 were treated with a volar plate and 49 with Hoffmann II external fixator. The exclusion criteria were patients with a history of wrist fractures, with neurological diseases, pathological fractures and polytrauma patients. Clinical and radiographic results were evaluated in both groups of patients. Clinical parameters were: average flexion, average extension, average pronation and supination, and the average radial and ulnar deviation. The radiographic parameters that we considered were the radial tilt and ulnar variance. In both groups, we evaluated the clinical results with the DASH score and the Mayo-Wrist score. The unstable and intra-articular fractures of the distal radius can be treated with different methods, among which the most commonly used are the open reduction and internal fixation with plates or the synthesis with external fixation. Our study shows how both methods provide similar clinical and radiographic results, so the choice of which to use depends more on the surgeon's experience and the patient's compliance rather than on the type of fracture.


The practice of sport, intended not just as a physical activity performed exclusively for athletic competition, represents a key element for growth on an emotional and social level. Practicing sports can help to enhance one’s self- and body awareness through multidimensional dynamic and ludic activity. In this context, sport becomes an educational and training tool, and is often a forerunner of social change. Sports practice combining physical activity with recreational activity, can, in fact, promote health and longevity, as well as physical and psychological wellbeing. As highlighted by the European Union, sport is also a source of social inclusion, and an excellent tool for the integration of minorities and groups at risk of social exclusion.

In 2015, a whole body dissection course was proposed by the University of Palermo (UoP), Palermo, Italy, thanks to the cooperation with the University of Malta (UoM), Msida, Malta. The purpose of this study was to show the difference between the study of anatomy on books and on corpses. The article focuses its attention on the dissection method of the upper limb. The study was performed on two corpses, a male and a female, by using a basic surgeon kit. Blunt dissection method was used for fasciae, innards and to isolate vascular-nervous structures from the fat; we used scalpel for cutis, sub cutis, muscles and tendons. We compared the anatomy figured by books and cadaver’s anatomy. We separated muscles, fasciae, veins, arteries and nerves of the upper limb from the shoulder to the hand. The upper limb dissection shows the difference between how a real body appears and how books represent it.       

The pseudo-aneurysm is an encapsulated hematoma of post-traumatic origin which is in communication with the lumen of the artery of relevance. We present a rare case of pseudo-aneurysm occurring after superior thyroid trans-esophageal echocardiography (TEE) and external cardioversion. Singular occurrence in otolaryngology, if not recognized early a pseudo-aneurysm can result in dramatic events such cataclysmic bleeding or acute occlusion of the upper airway.

The oculomotor nucleus is divided into: 1. somatic medial column innervating the superior rectus muscle and somatic lateral column, further subdivided into a lateral column innervating the inferior rectus, inferior oblique and medial rectus muscles; 2. central nucleus innervating the levator palpebrae superioris muscle; 3. visceral nucleus innervating the pupillary sphincter muscle, consisting of the following two groups of neurons: cholinergic, preganglionic neurons supplying the ciliary ganglion, termed the Edinger-Westphal preganglionic (EWpg) neuron population, and the centrally projecting, peptidergic neurons, termed the Edinger-Westphal centrally projecting (EWcp) population. A detailed understanding of the position of both nuclei and their subgroups supplying the individual muscles is an essential prerequisite for eye movement assessment, offering a simple clinical method for diagnosing eventual dysfunctions of eye movement generation pathways.

In January 2006, a new journal, Capsula Eburnea, was born into the Italian scientific publishing scene with the initial goal of creating, at the same time, “an open scientific forum and a blog”, based on the premise that “in medicine, nothing should be considered stable, immutable or unsusceptible to critical review at any time, by any scientist”. The Editorial Team progressively sought to improve the quality of the manuscripts published, introducing the requirement for all articles to be written in English, and changed the Journal’s name to EuroMediterranean Biomedical Journal in 2012. Over the last five years, approximately 125 articles by young doctors (including original articles, reviews, commentaries, notes, and abstract books) have been published. The editorial board are confident that the new publishing layout and the renewed web-portal of the journal, introduced in this editorial, represent an essential upgrade after over 10 years of editorial activity, and that these improvements will be appreciated by our authors and, especially, our readers.

Wednesday, 28 December 2016 11:25


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Sunday, 25 December 2016 23:00


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