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Jung Min Ko, Jae So Cho, Yongjin Yoo, Jieun Seo, Murim Choi, Jong-Hee Chae, Hye-Ran Lee, Tae-Joon Cho
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity...
October 24, 2016: Journal of Child Neurology
Nathan Zapolsky, Michael Heller, Mark Felberbaum, Jeremy Rose, Eric Steinberg
No abstract text is available yet for this article.
October 17, 2016: Journal of Emergency Medicine
Patrizia Salice, Mario Giovanni Bianchetti, Alessandra Giavarini, Erica Gondoni, Riccardo Cavalli, Anna Maria Colli, Federico Lombardi
Propranolol is becoming the treatment of choice for complicated infantile hemangioma. We report here data on peripheral blood flow, O2-saturation, electrocardiographic PR-interval, left ventricular function, blood pressure and heart rate that were assessed before and during treatment for ≥4 weeks with propranolol 2 mg/kg of body weight daily in 67 infants <12 months of age in normal sinus rhythm and with structurally normal hearts. Management with propranolol was well tolerated in all and did not modify peripheral blood flow, O2-saturation, electrocardiographic PR-interval and left ventricular fractional shortening or ejection fraction...
October 19, 2016: Pharmacology
Katie N Myers, Giancarlo Barone, Anil Ganesh, Christopher J Staples, Anna E Howard, Ryan D Beveridge, Sarah Maslen, J Mark Skehel, Spencer J Collis
It was recently discovered that vertebrate genomes contain multiple endogenised nucleotide sequences derived from the non-retroviral RNA bornavirus. Strikingly, some of these elements have been evolutionary maintained as open reading frames in host genomes for over 40 million years, suggesting that some endogenised bornavirus-derived elements (EBL) might encode functional proteins. EBLN1 is one such element established through endogenisation of the bornavirus N gene (BDV N). Here, we functionally characterise human EBLN1 as a novel regulator of genome stability...
October 14, 2016: Scientific Reports
Camila Albuquerque Melo de Carvalho, Daniela Pretti da Cunha Tirapelli, Andressa Romualdo Rodrigues, Fermino Sanches Lizarte, Paulo Cézar Novais, Jairo Pinheiro Silva, Carlos Gilberto Carlotti, Benedicto Oscar Colli, Luís Fernando Tirapelli
PURPOSE: To evaluated histopathological changes, morphometric and expression of proteins CASPASE-3, BCL-2 and XIAP related to apoptosis in the cerebellum after induction of temporary focal cerebral ischemia followed by reperfusion, with or without a model of chronic alcoholism. METHODS: Fifty Wistar rats were used and divided into: control group (C), sham group (S), ischemic group (I), alcoholic group (A), and ischemic and alcoholic group (IA). The cerebellum samples collected were stained for histopathological and morphometric analysis and immunohistochemistry study...
September 2016: Acta Cirúrgica Brasileira
Luigi Pagliaro, Agostino Colli
The clinician - the doctor who treats sick people - should be able to establish a good human relationship with his or her patients and their family; should be able to reach a diagnosis even in patients with rare diseases, or atypical presentations - or should refer the patient to a senior colleague; and should be able to recommend the best treatment (or no treatment at all). And he - or she - should be able to draw these abilities from the "deliberate practice" according to Ericsson, i.e. from the combination of experience with reflection - not, or with much lesser strength, from the medical literature as suggested by Evidence-Based Medicine...
September 2016: Recenti Progressi in Medicina
Agostino Colli, Mirella Fraquelli, Daniele Prati, Alessia Riva, Alessandra Berzuini, Dario Conte, Alessio Aghemo, Massimo Colombo, Giovanni Casazza
INTRODUCTION: In a perspective of economic constraints the prioritizing of patients to IFN-free regimens is mainly based on the determination of liver stiffness by transient elastography (TE). Being a continuous variable the interpretation of TE results requires the identification of cut-off values, to date set to maximize diagnostic accuracy even if such values should be better based on more helpful outcome prediction endpoints. AIM: To define the TE cut-off values in different clinical scenarios, including new IFN-free regimens, and to balance the clinical benefits versus harms in treated and untreated patients...
2016: PloS One
Khic-Houy Prang, Behrooz Hassani-Mahmooei, Alex Collie
BACKGROUND: Compensation health research aims to study the influence of compensation systems, processes and practices on health and health-related outcomes. In many jurisdictions, injury compensation authorities collect substantial volumes of case and service level data for the purpose of administering the compensation system. An important secondary use of such data is research and analysis to explore interactions between individuals and organisations in compensation systems, and between compensation and other systems including healthcare and legal systems, in order to understand the role of compensation processes in injury recovery...
October 1, 2016: BMC Research Notes
Sharon Newnam, Alan Petersen, Helen Keleher, Alex Collie, Adam Vogel, Rod McClure
BACKGROUND: Case managers within injury compensation systems are confronted with various emotional demands. OBJECTIVE: Employing the concept of emotional labour, this paper explores distinctive aspects of these demands. METHODS: The findings are drawn from focus groups with 21 Australian case managers. RESULTS: Case managers work was characterised by extra-role commitments, emotional control, stress and balancing tensions arising from differing stakeholder expectations about outcomes related to compensation and return to work...
October 17, 2016: Work: a Journal of Prevention, Assessment, and Rehabilitation
Susan Taylor, Katie Minor, Cindy L Shmon, G Diane Shelton, Edward E Patterson, James R Mickelson
Completed surveys were obtained from owners of 165 border collies experiencing repeated episodes of abnormal gait or collapse during strenuous exercise. Unremarkable veterinary evaluation and lack of disease progression over time made common systemic, cardiac, and neurologic causes of exercise intolerance unlikely. Survey questions addressed signalment, age of onset, description of episodes, and owner perception of factors associated with collapse. Most dogs were young adults (median 2 y) when episodes began, and they had experienced from two to more than 100 episodes (median six) prior to their owners completing the survey...
September 29, 2016: Journal of the American Animal Hospital Association
B Marples, S A Krueger, T G Wilson, M B Dabjan, K C Lee, R V Hymas, G D Wilson, S J Collis
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
Krisztina Kovács, Anna Kis, Ákos Pogány, Dóra Koller, József Topál
Dogs have been proven to show several human-analogue social behaviors, and recent research raises the possibility that the oxytocin system is related to these. However, despite dogs' general tendency to excel in the domain of social cognition, there is increasing evidence that dogs' ability to utilize human signals may vary with breed. Moreover, breeds may show differences not only in their 'inborn' communicative abilities, but also in their learning skills related to these. The aim of the present study was to explore breed differences and breed-specific effects of oxytocin administration on different aspects of social responsiveness...
September 20, 2016: Psychoneuroendocrinology
David H Collis, Ameeth Sanu
An 11-month-old boy presented with a 2-day history of non-specific symptoms and a zygomatic haematoma. With aetiology uncertain after admission clerking and blood tests, a CT head scan was arranged for suspected traumatic injury and revealed a retropharyngeal abscess (RPA) with significant airway narrowing in the transverse plane. The patient received urgent intraoral abscess drainage and bilateral tonsillectomy in theatre. This case highlights the need for a high index of suspicion regarding RPAs. These abscesses have potentially fatal sequelae and are difficult to diagnose in the infant paediatric population...
2016: BMJ Case Reports
Emily M Erstine, Angela M B Collie, Melissa P Piliang
No abstract text is available yet for this article.
September 14, 2016: JAMA Dermatology
Onur L Ulusoy, Suleyman Tutar, Ersin Ozturk, Ayhan Mutlu, Muzaffer Saglam
No abstract text is available yet for this article.
September 2016: Neurology India
Mirella Fraquelli, Giovanni Casazza, Dario Conte, Agostino Colli
BACKGROUND: Cholelithiasis refers to the presence of gallstones, which are concretions that form in the biliary tract, usually in the gallbladder. Cholelithiasis is one of the most common surgical problems worldwide and is particularly prevalent in most Western countries.Biliary colic is the term used for gallbladder pain experienced by a person with gallstones and without overt infection around the gallbladder. It is the most common manifestation of cholelithiasis, observed in over one-third of people with gallstones over the course of 10 or more years...
September 9, 2016: Cochrane Database of Systematic Reviews
Ashley Craig, Yvonne Tran, Rebecca Guest, Bamini Gopinath, Jagnoor Jagnoor, Richard A Bryant, Alex Collie, Robyn Tate, Justin Kenardy, James W Middleton, Ian Cameron
OBJECTIVE: The aim of this meta-analysis was to determine the psychological impact associated with motor vehicle crash (MVC)-related physical injuries. DESIGN: Systematic review and meta-analysis. DATA SOURCES: Multiple search engines included MEDLINE (via OVID), PsycINFO and Embase, and studies were sourced from scientific journals, conference papers and doctoral theses. STUDY SELECTION: A high-yield search strategy was employed...
2016: BMJ Open
Carla Zangari de Souza, Katyelle Rafael, Ana Paula Sanders, Bruna Tiaki Tiyo, Ariella Andrade Marchioro, Cristiane Maria Colli, Mônica Lúcia Gomes, Ana Lúcia Falavigna-Guilherme
Toxoplasma gondii oocysts are an important form of contamination with a high dispersion in the environment, but their detection is still a challenge. This study evaluated the recovery of oocysts from strawberries and crisphead lettuce. Samples (250 g of strawberries or one head of lettuce) were experimentally inoculated with 10, 10(2), 10(3) and 10(4) T. gondii oocysts, by two separate processes, spot dripping and immersion. Then, 50 g of each sample was washed, filtered through a cellulose ester membrane, and concentrated by centrifugation...
October 2016: International Journal of Environmental Health Research
Jessica A Zaman, Anne O Lidor
While the asymptomatic paraesophageal hernia (PEH) can be observed safely, surgery is indicated for symptomatic hernias. Laparoscopic repair is associated with decreased morbidity and mortality; however, it is associated with a higher rate of radiologic recurrence when compared with the open approach. Though a majority of patients experience good symptomatic relief from laparoscopic repair, strict adherence to good technique is critical to minimize recurrence. The fundamental steps of laparoscopic PEH repair include adequate mediastinal mobilization of the esophagus, tension-free approximation of the diaphragmatic crura, and gastric fundoplication...
October 2016: Current Gastroenterology Reports
Man Kyu Choi, Sung Bum Kim, Chang Kyu Park, Sung Ho Lee, Dae Jean Jo
OBJECTIVE: In the cervical spine, deep paraspinal muscles (DPMs) function to preserve spinal stability and mobility. However, the relationship between DPMs and bone union after cervical fusion surgery has not yet been investigated. The objective of the study is to evaluate the relationship between the cross-sectional area (CSA) of DPMs and bone union after cage alone anterior cervical decompression and fusion (ACDF). METHODS: A total of 243 patients who underwent cage alone ACDF at the C5-C6 or C6-C7 segments were enrolled...
September 1, 2016: World Neurosurgery
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