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https://www.readbyqxmd.com/read/27917507/evidence-of-a-genomic-insertion-in-intron-2-of-sod1-causing-allelic-drop-out-during-routine-diagnostic-testing-for-canine-degenerative-myelopathy
#1
M E Turba, R Loechel, E Rombolà, G Gandini, F Gentilini
Degenerative myelopathy is a severe and progressive neurodegenerative disease and, in the majority of breeds, is associated with the c.118G>A substitution in exon 2 of the canine superoxide dismutase 1 (SOD1) gene. Our laboratories have been engaged in determining the cause of many discordant findings between the parental and the offspring genotypes found by different laboratories. In both cases, the discordant findings refer to actual heterozygous dogs that had been typed as homozygous for the variant allele...
December 4, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27904957/neck-pain-and-acute-dysphagia
#2
João Simões, José Romão, Anita Cunha, Sofia Paiva, António Miguéis
The acute tendinitis of the longus colli muscle is an unusual diagnosis in the cases of acute dysphagia with cervical pain. Is a self-limiting condition caused by abnormal calcium hydroxyapatite deposition in the prevertebral space and can cause pharyngeal swelling with impaired swallow. It is absolutely critical to make the differential diagnosis with deep cervical infections in order to avoid invasive treatments.
November 30, 2016: Dysphagia
https://www.readbyqxmd.com/read/27879369/standardized-response-assessment-criteria-and-their-applications-in-lymphoma-part-2
#3
Mateen Collis Moghbel, Erik Mittra, Andrea Gallamini, Ryan Niederkohr, Delphine Chen, Katherine Zukotynski, Helen Nadel, Lale Kostakoglu
Interim and end-of-treatment PET/CT have become central to the evaluation of Hodgkin's and non-Hodgkin's lymphoma. This review article seeks to aid clinical decision-making by providing an overview of available data on the diagnostic and prognostic value of PET/CT imaging for response assessment and pre-transplant evaluation in lymphoma. The relative strengths and limitations of these techniques in various disease subtypes and clinical scenarios are explored, along with their current standards for reporting and latest developments...
November 22, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/27875056/opioid-nsaid-and-otc-analgesic-medications-for-dental-procedures-pearl-network-findings
#4
Ying Jo Wong, James Keenan, Keith Hudson, Henry Bryan, Frederick Naftolin, Van P Thompson, Ronald G Craig, Don Vena, Damon Collie, Hongyu Wu, Abigail G Matthews, Ashley C Grill, Frederick A Curro
OBJECTIVE: Dental treatment is often categorized as a moderately or severely painful experience; however, no clinical data reported by the patient and dentist currently exists to support this degree of pain. This has contributed possibly to the overprescribing of analgesics, in particular the opioid class of medications. The primary objective of the study was to document the dentists' postprocedural prescriptions and recommendations for analgesic medications and their effectiveness for a 5-day period...
November 2016: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/27867408/reliability-of-a-measurement-method-for-the-cross-sectional-area-of-the-longus-colli-using-real-time-ultrasound-imaging
#5
Cliona O'Riordan, Pepijn Van De Ven, John Nelson, Karen McCreesh, Amanda Clifford
OBJECTIVE: Real-time ultrasound imaging is an established objective outcome measurement with proven reliability. However, it is still largely biased by user-ability. Published research in the area of real-time ultrasound imaging reliability in the cervical region and in particular the deep cervical flexors is quite sparse. The purpose of this investigation was to examine if a novice ultrasound user could agree favourably with an experienced ultrasound sonographer in measuring the cross-sectional area of the longus colli...
August 2016: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/27859953/the-perceived-influence-of-childhood-cancer-on-the-parents-relationship
#6
L Wiener, H Battles, S Zadeh, W Pelletier, M N F Arruda-Colli, A Muriel
OBJECTIVE: When a child is diagnosed with cancer, parents are faced with many practical and emotional challenges that can significantly affect their relationship. This study explores how having a child with cancer affects the quality of the parents' relationship; categorizes time points and events during the child's treatment when the relationship becomes most stressed and/or strengthened; identifies factors that help couples remain emotionally engaged throughout their child's cancer treatment; and assesses parental interest in a counseling intervention...
November 15, 2016: Psycho-oncology
https://www.readbyqxmd.com/read/27853767/high-energy-density-mno4-mno4-2-redox-couple-for-alkaline-redox-flow-batteries
#7
Alejandro N Colli, Pekka Peljo, Hubert H Girault
The MnO4(-)/MnO4(2-) redox couple has a positive redox potential, high electrochemical reversibility and high solubility, up to 3.62 M at room temperature. Careful optimization of the electrolyte composition and the potential limits eliminates the side reactions, making this redox couple an attractive option for alkaline redox flow batteries.
November 17, 2016: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/27843167/use-of-transgenic-aedes-aegypti-in-brazil-risk-perception-and-assessment
#8
Paulo Paes de Andrade, Francisco José Lima Aragão, Walter Colli, Odir Antônio Dellagostin, Flávio Finardi-Filho, Mario Hiroyuki Hirata, Amaro de Castro Lira-Neto, Marcia Almeida de Melo, Alexandre Lima Nepomuceno, Francisco Gorgônio da Nóbrega, Gutemberg Delfino de Sousa, Fernando Hercos Valicente, Maria Helena Bodanese Zanettini
The OX513A strain of Aedes aegypti, which was developed by the British company Oxitec, expresses a self-limiting transgene that prevents larvae from developing to adulthood. In April 2014, the Brazilian National Technical Commission on Biosafety completed a risk assessment of OX513A and concluded that the strain did not present new biological risks to humans or the environment and could be released in Brazil. At that point, Brazil became the first country to approve the unconstrained release of a genetically modified mosquito...
October 1, 2016: Bulletin of the World Health Organization
https://www.readbyqxmd.com/read/27832857/first-in-human-of-catheter-delivered-annuloplasty-ring-to-treat-functional%C3%A2-mitral-regurgitation
#9
Gino Gerosa, Laura Besola, Erica Manzan, Eleonora Bizzotto, Fabio Zucchetta, Demetrio Pittarello, Giuseppe Tarantini, David Meerkin, Andrea Colli
No abstract text is available yet for this article.
November 14, 2016: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/27821378/prevalence-of-humeral-head-osteochondrosis-in-the-greater-swiss-mountain-dog-and-the-border-collie-in-switzerland
#10
S Ohlerth, S Senn, U Geissbühler, P Kircher, M Flückiger
Osteochondrosis (OC) is common in large-breed dogs. According to the breeding guidelines of the Swiss kennel clubs, the shoulder joints are included in the radiographic screening for joint diseases in the Greater Swiss Mountain dog (GSMD) and the Border Collie (BC) since 1993 and 2003, respectively. The aim of this study was to estimate the overall prevalence of humeral head OC in these 2 breeds in Switzerland based on the data of the Swiss National Dysplasia Committees. All radiographs were re-evaluated to assess single radiographic changes...
November 2016: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/27810137/laparoscopic-reoperative-antireflux-surgery-a-safe-procedure-with%C3%A2-high-patient-satisfaction-and-low-morbidity
#11
Farzaneh Banki, Chandni Kaushik, David Roife, Munish Chawla, Robert Casimir, Charles C Miller
BACKGROUND: Laparoscopic reoperative antireflux surgery remains challenging and the advantages compared to an open approach remain unclear. METHODS: Retrospective chart review and follow-up questionnaire via phone. RESULTS: 50 reoperative hiatal hernia repairs were performed in 47 patients. VALUES: median and interquartile range (IQR). There were 10 males, 37 females, 55 (49-66) years. Reoperative procedures: 38 laparoscopic vs...
December 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/27806840/lobular-neoplasia-diagnosed-on-breast-core-biopsy-frequency-of-carcinoma-on-excision-and-implications-for-management
#12
Benjamin C Calhoun, Angela M B Collie, Abberly A Lott-Limbach, Esther N Udoji, Leah R Sieck, Christine N Booth, Erinn Downs-Kelly
The appropriate follow-up and treatment for patients with a core biopsy diagnosis of lobular neoplasia (atypical lobular hyperplasia or lobular carcinoma in situ) remains controversial. Several studies have attempted to address this issue, with recommendations ranging from close clinical follow-up or surveillance to mandatory surgical excision in all cases. We report the findings at our institution, where virtually every core needle biopsy diagnosis of lobular neoplasia results in follow-up excision. The goal of the study was to identify potential predictors of upgrade to a more significant lesion...
December 2016: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/27801969/high-performance-computation-of-landscape-genomic-models-including-local-indicators-of-spatial-association
#13
S Stucki, P Orozco-terWengel, B R Forester, S Duruz, L Colli, C Masembe, R Negrini, E Landguth, M R Jones, M W Bruford, P Taberlet, S Joost
With the increasing availability of both molecular and topo-climatic data, the main challenges facing landscape genomics-i.e. the combination of landscape ecology with population genomics - include processing large numbers of models and distinguishing between selection and demographic processes (e.g. population structure). Several methods address the latter, either by estimating a null model of population history or by simultaneously inferring environmental and demographic effects. Here we present Samβada, an approach designed to study signatures of local adaptation, with special emphasis on high performance computing of large-scale genetic and environmental datasets...
November 1, 2016: Molecular Ecology Resources
https://www.readbyqxmd.com/read/27777327/wiedemann-steiner-syndrome-with-2-novel-kmt2a-mutations-variable-severity-in-psychomotor-development-and-musculoskeletal-manifestation
#14
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
https://www.readbyqxmd.com/read/27765436/calcific-tendonitis-of-the-longus-colli-an-uncommon-but-benign-cause-of-throat-pain-that-closely-mimics-retropharyngeal-abscess
#15
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
https://www.readbyqxmd.com/read/27756073/cardiovascular-profile-of-propranolol-after-multiple-dosing-in-infantile-hemangioma
#16
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
https://www.readbyqxmd.com/read/27739501/the-bornavirus-derived-human-protein-ebln1-promotes-efficient-cell-cycle-transit-microtubule-organisation-and-genome-stability
#17
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
https://www.readbyqxmd.com/read/27737349/morphological-and-immunohistochemical-analysis-of-apoptosis-in-the-cerebellum-of-rats-subjected-to-focal-cerebral-ischemia-with-or-without-alcoholism-model
#18
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
https://www.readbyqxmd.com/read/27727255/-walking-among-doctors-and-patients-stories-and-reflections
#19
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
https://www.readbyqxmd.com/read/27723770/deciding-on-interferon-free-treatment-for-chronic-hepatitis-c-updating-liver-stiffness-cut-off-values-to-maximize-benefit
#20
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
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