NOVEL INTRONIC VARIANTS IN UNCONVENTIONAL GENE CLUSTER COULD LEAD TO THE IDENTIFICATION OF A NEW RETINITIS PIGMENTOSA PHENOTYPEWritten by Luigi Donato
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.
ARTICULAR FRACTURES OF DISTAL RADIUS: COMPARISON OF TREATMENT AND CLINICAL AND RADIOLOGICAL OUTCOMES WITH VOLAR PLATE VERSUS HOFFMANN BRIDGING EXTERNAL FIXATOR.Written by Michele Bisaccia et al.
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.
SPECIAL EDUCATIONAL NEEDS AND SPORT. PSYCHOLOGICAL ASPECTS OF THE INTERACTION BETWEEN COGNITIVE, AFFECTIVE-EMOTIONAL AND MOTOR AREAWritten by Fedele Termini et al.
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.
PSEUDOANEURYSM OF SUPERIOR THYROID ARTERY FOLLOWING A TRANSESOPHAGEAL ECHOCARDIOGRAPHY: A CASE PRESENTATIONWritten by Frank Rikki Canevari et al.
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.
EUROMEDITERRANEAN BIOMEDICAL JOURNAL: THE RENEWED MANUSCRIPT LAYOUT AND WEB RENDERING FORESHADOW FURTHER JOURNAL IMPROVEMENTWritten by Editorial Team
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.
ABSTRACT BOOK ONSP DAYS 2016—13th ITALIAN MEETING OF NATIONAL OBSERVATORY FOR TRAINEES AND YOUNG PAEDIATRICIANSWritten by ONSP
In the senile population, regular physical activity and reduction of a sedentary lifestyle lead to a series of positive effects. Such as, increased independence in daily activities and personal care, higher self-esteem, a better quality of life, a higher life expectancy and a decrease in mortality. Moreover, physical, psychological, and cognitive functions can also improve. With regards to this notion, the Walking Football (WF) activity was started in England; a sport designed for the needs population segment, who, due to overweight and other typical diseases of old age, has a limited mobility and can only play sports with lowmoderate cardiovascular effort. WF is a new sport mainly created for people over 50, i.e. the population diagnosed with chronic degenerative diseases, and the actual increase of obesity gradually cause to abstain from a regular physical activity. The game is played 7 vs. 7 and all players must only walk; running is considered a foul. To avoid sudden movements and reduce the risk of injury, the ball must be always kept on the ground, and slide tackles and an aggressive behavior are prohibited. This sport, a slow variation of football, is considered a low risk sport activity for the low incidence of traumatic events and can be practiced safely because the cardiovascular effort is minimum. WF comes directly from football, which is considered the most popular sport in the world. It is also associated with positive social and motivational factors that may facilitate compliance to the sport, which help maintain a physically active lifestyle. WF is still not widespread in Italy, and our hope is that it can become, in a short time, a reference for the sports designed for the elderly.
COLON MICROBIAL COMPOSITION IS CORRELATED WITH THE SEVERITY OF COLITIS INDUCED BY 2,4,6-TRINITROBENZENESULFONIC ACID IN MICEWritten by Giovanna Traina et al.
The objective of this study was to evaluate the changes in some bacterial species of colonic microbiota, the clinical signs and the intestinal changes in mice with 2,4,6trinitrobenzenesulfonic acid (TNBS)-induced colitis. CD-1 male mice were randomly divided into three groups and inoculated intrarectally with saline, ethanol or TNBS solutions. Ethanol and TNBS treatments induced weight loss accompanied by mild and severe inflammation of the colon mucosa, respectively. However, TNBS-treated mice displayed significant differences compared to the saline group in terms of disease activity index and histological scoring. Both ethanol and TNBS groups showed an increased prevalence of Escherichia coli and Clostridium spp., a decrease in Lactobacilli and Bifidobacteria counts, as well as changes in the relative proportions of bacteria in the colon. The results confirm the validity of TNBS treatment to study the mechanisms involved in the pathogenesis and progression of inflammatory bowel diseases (IBD) in CD-1 mice. Gut microbiota may become a diagnostic biomarker with therapeutic potential for IBD in the future.
Reduction mammoplasty is one of the most common procedures performed by plastic surgeons. Surgeons select the technique that best suits each patient based on the surgeon’s experience, specific patient characteristics and requirements. The purpose of this article is to report the complications that occurred in patients who underwent reduction mammoplasty at our institution, and to compare our data to the current literature. We studied the postoperative complications from 82 breast reductions (41 patients), which used superior pedicle (n = 6), inferior pedicle (n = 36), medial pedicle (n = 10) or Thorek (n = 30) techniques. The most common postoperative complications were hematoma (7%), seroma (2.5%), delayed wound healing (14%), partial nipple loss (4.8%), infection (10%) and asymmetry (12%). We observed complications in 64% of patients that underwent inferior pedicle breast reduction with an inverted T scar. One possible explanation for this complication rate is that inferior pedicle Wise-pattern mammoplasty is usually performed for breasts with sternal notch-tonipple distances greater than 32 cm, or for symptomatic macromastia, and greater amounts of resected tissue are known to be associated with higher complication rates. Nevertheless, this technique is associated with excellent patient satisfaction. Indeed, complications are quite frequent and may occur even in the most suitable candidates, but do not compromise the final result.