Several lines of evidence showed that apoptosis rate of cumulus cells in oocytes derived by assisted reproductive technologies could be used as an indicator of fertilizing gamete quality. Aim of the study was to investigate the effects of three different ovarian stimulation protocols on the biological and clinical outcome in hyporesponder patients. Collected data showed a higher significant rate of DNA fragmentation index (DFI) in U group (patients treated with Highly Purified human Menopausal Gonadotrophin) than in P group (treated with recombinant human Follicle Stimulating Hormone (r-hFSH) combined with recombinant human Luteinizing Hormone (r-hLH)). Both groups R (treated with r-hFSH alone) and P showed a significant increase in collected and fertilized oocytes number, embryo quality number. This study showed that combined r-hFSH/r-hLH therapy could represent the best pharmacological strategy for controlled ovarian stimulation and suggests to use DFI as a biomarker of ovarian function in hyporesponder patients.
CHILD ABUSE IN A MEDICAL SETTING: CASE ILLUSTRATIONS OF TWO VARIANTS OF MUNCHAUSEN SINDROME BY PROXY.Written by Antonietta Lanzarone et al.
Munchausen syndrome is a complex type of abuse, which is often underdiagnosed or misdiagnosed in clinical practice, and has harmful consequences for children. Its relationship with child abuse, of which it is a variety, must be recognized in clinical and forensic practice. The authors report herein two observed cases of different types of Münchausen syndrome by proxy (MSbP). The first, is the most severe form ofMSbP, with induced, true illness and related pathological symptoms into victim. The second case is a moderate form, much more complex to detect, in which a perpetrator parent simulates and aggravates the child‘s illness. Adequate training of health professionals and investigators is essential in revealing cases of MSbP. Diagnosis must be based on the study of the different forms of "abuse" and the knowledge of clinical protocols used to validate any suspected behaviour which could be potentially harmful to the child. Moreover, a lack of training may lead to misleading interpretations of medical history interpretation and fallacious conclusions. Our study aims to review the features that are to be considered in a suspected case of MSbP, in accordance with a recently updated consensus statement by the Committee on Child Abuse and Neglect from the American Academy of Pediatrics.
Gene expression in mammalians is a very finely controlled mechanism, and bidirectional promoters can be considered one of the most compelling examples of the accuracy of genic expression coordination. Asrecently reported, a bidirectional promoter regulates the expression of the PDCD10 (whose mutations cause familial Cerebral Cavernous Malformations (CCMs) and SERPINI1 gene pair, even though they are non-homologous genes. The aim of this study was to identify any potential common roles of these two coregulated genes. An in-silico approach was used to identify functional correlations, using the BioGraph, IPA® and Cytoscape tools and the KEGG pathway database. The results obtained show that PDCD10 and SERPINI1 may co-regulate some cellular processes, particularly those related to focal adhesion maintenance. All common pathways identified for PDCD10 and SERPINI1 are closely associated with the pathogenic characteristics of CCMs; we thus hypothesize that genes involved in these networks may contribute to the development of CCMs.
ACETYL-L-CARNITINE AFFECTS THE ELECTRICAL ACTIVITY OF MECHANOSENSORY NEURONS IN HIRUDO MEDICINALIS GANGLIAWritten by Giovanna Traina et al.
Was previously discovered that in the leech Hirudo medicinalis, acetyl-l-carnitine (ALC) affects forms of non-associative learning, such as sensitization and dishabituation, due to nociceptive stimulation of the dorsal skin in the swim induction behavioural paradigm, likely through modulating the activity of the mechanosensory tactile (T) neurons, which initiate swimming. Since was found that ALC impaired sensitization and dishabituation, both of which are mediated by the neurotransmitter serotonin, the present study analyzed how ALC may interfere with the sensitizing response. Was already found that ALC reduced the activity of nociceptive (N) neurons, which modulate T cell activity through serotonergic mediation.
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.