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Nick X Bommer, Serena E Brownlie, Linda R Morrison, Marge L Chandler, James W Simpson
Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and metabolic acidosis consistent with Fanconi syndrome. Renal ultrasonographic and histologic findings are presented. Cases were managed with a supplementation regimen based on a treatment protocol for Fanconi syndrome in basenjis. These dogs did not have angular limb deformities as documented previously in juvenile canine siblings with Fanconi syndrome...
March 20, 2018: Journal of the American Animal Hospital Association
Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte, Maria Cristina Diana, Marta Ferretti, Paolo Broda, Carlo Minetti, Elisabetta Gazzerro, Francesca Madia, Claudio Bruno, Federico Zara, Chiara Fiorillo
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA...
March 19, 2018: Journal of Human Genetics
Serena Fragiotta, Carmela Carnevale, Alessandro Cutini, Erika Rigoni, Pier Luigi Grenga, Enzo Maria Vingolo
SIGNIFICANCE: The authors analyze factors influencing bivariate contour ellipse area (BCEA) in healthy and pathologic eyes and how such factors may affect isolated (static BCEA) or microperimetric fixation (dynamic BCEA). They conclude that aging increases both dynamic BCEA and examination time, whereas static BCEA offers less variance and the maximum distinction with pathologic eyes. PURPOSE: The aim of this study was to assess factors influencing BCEA and the recording method that offer less variability and thus maximum distinction between healthy and pathologic eyes...
March 16, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Chiara Assunta Pilato, Ilaria Stadiotti, Angela Serena Maione, Valentina Saverio, Valentina Catto, Fabrizio Tundo, Antonio Dello Russo, Claudio Tondo, Giulio Pompilio, Michela Casella, Elena Sommariva
A normal adult heart is composed of several different cell types, among which cardiac mesenchymal stromal cells represent an abundant population. The isolation of these cells offers the possibility of studying their involvement in cardiac diseases, and, in addition, provides a useful primary cell model to investigate biological mechanisms. Here, the method for the isolation of C-MSC from arrhythmogenic cardiomyopathy patients' bioptic samples is described. The endomyocardial biopsy sampling is guided in the right ventricular areas adjacent to the scar visualized by electro-anatomical mapping...
February 28, 2018: Journal of Visualized Experiments: JoVE
Joshua Isen, Laura Baker, Melissa Kern, Adrian Raine, Serena Bezdjian
The appearance of positive adjustment is a theoretically relevant element of psychopathy, and is valuable for demonstrating its incremental validity over a broader antisocial orientation. We examined associations between psychopathic-like features and two measures of adaptive functioning: psychometric intelligence and (immunity to) internalizing problems. Ratings of psychopathy and behavioral problems were obtained in a community sample of children ( N =1210). A bifactor model was fit to the psychopathic personality items to capture the underlying variance common to all traits (i...
April 1, 2018: Personality and Individual Differences
Paolo Fattorini, Giorgio Marrubini, Serena Bonin, Barbara Bertoglio, Pierangela Grignani, Elisa Recchia, Paola Pitacco, Francesca Procopio, Carolina Cantoni, Irena Zupanič Pajnič, Solange Sorçaburu-Cigliero, Carlo Previderè
Heat-mediated hydrolysis of DNA is a simple and inexpensive method for producing damaged samples in vitro. Despite heat-mediated DNA hydrolysis is being widely used in forensic and clinical validation procedures, the lack of standardized procedures makes it impossible to compare the intra and inter-laboratory outcomes of the damaging treatments. In this work, a systematic approach to heat induced DNA hydrolysis was performed at 70 °C for 0-18 h to test the role both of the hydrolysis buffer and of the experimental conditions...
March 15, 2018: Analytical Biochemistry
Sharon R Browning, Brian L Browning, Ying Zhou, Serena Tucci, Joshua M Akey
Anatomically modern humans interbred with Neanderthals and with a related archaic population known as Denisovans. Genomes of several Neanderthals and one Denisovan have been sequenced, and these reference genomes have been used to detect introgressed genetic material in present-day human genomes. Segments of introgression also can be detected without use of reference genomes, and doing so can be advantageous for finding introgressed segments that are less closely related to the sequenced archaic genomes. We apply a new reference-free method for detecting archaic introgression to 5,639 whole-genome sequences from Eurasia and Oceania...
March 15, 2018: Cell
Immacolata Dall'Oglio, Valentina Vanzi, Emanuela Tiozzo, Orsola Gawronski, Valentina Biagioli, Serena Tucci, Massimiliano Raponi
PURPOSE: Journal Clubs (JCs) for nurses and allied health professionals have been held in an Italian pediatric hospital since April 2008. This study aimed to: examine what type of articles have been used during JCs across 5years; investigate the potential implications for clinical and organizational practice; assess the participants' satisfaction about JCs and their contribution to professional development. DESIGN AND METHODS: Using a retrospective design, all articles proposed in the JCs were examined...
March 15, 2018: Journal of Pediatric Nursing
Floriana Costanzo, Serena Rossi, Cristiana Varuzza, Pamela Varvara, Stefano Vicari, Deny Menghini
Noninvasive brain stimulation transiently modulates reading ability in individuals with dyslexia by facilitating the underactive neural pathways in them. However, its long-term effects have not been determined. This study confirmed the ameliorative effects of multiple sessions of transcranial direct current stimulation (tDCS) combined with a training for reading on the reading abilities of children and adolescents with dyslexia and examined whether they are long-lasting. Twenty-six children and adolescents with dyslexia received 3 20-minute sessions per week for 6 weeks (18 sessions) of left anodal/right cathodal tDCS, set to 1mA, over the parieto-temporal regions, combined with training for reading...
March 14, 2018: Neuropsychologia
Simone Frea, Paolo Centofanti, Stefano Pidello, Francesca Giordana, Virginia Bovolo, Andrea Baronetto, Beatrice Franco, Marco Matteo Cingolani, Matteo Attisani, Mara Morello, Serena Bergerone, Mauro Rinaldi, Fiorenzo Gaita
OBJECTIVES: The aim of this prospective study was to validate an echocardiographic protocol derived from 5 HeartWare left ventricular assist device (HVAD) patients for the noninvasive evaluation of right atrial pressure (RAP) and left atrial pressure (LAP) in HVAD patients. BACKGROUND: Echocardiography is an invaluable tool to optimize medical treatment and pump settings and also for troubleshooting residual heart failure. Little is known about the echocardiographic evaluation of hemodynamic status in HVAD patients...
March 9, 2018: JACC. Cardiovascular Imaging
Fuat Arikan, Marta Rubiera, Joaquín Serena, Ana Rodríguez-Hernández, Darío Gándara, Carles Lorenzo-Bosquet, Alejandro Tomasello, Ivette Chocrón, Maximiliano Quintana-Corvalan, Juan Sahuquillo
INTRODUCTION: Cerebral revascularization techniques are an indispensable tool in the current armamentarium of vascular neurosurgeons. We present revascularization surgery experience and results in both moyamoya disease and occlusive cerebral ischaemia. PATIENTS AND METHODS: Patients with ischaemic occlusive disease and moyamoya disease who underwent microsurgical revascularization between October 2014 and September 2017 were analysed. RESULTS: In the study period, 23 patients with occlusive ischaemic disease underwent microsurgical revascularization...
March 14, 2018: Neurocirugía
Stefano Uccella, Maria Cristina Mele, Lorena Quagliozzi, Emanuele Rinninella, Camilla Nero, Serena Cappuccio, Marco Cintoni, Antonio Gasbarrini, Giovanni Scambia, Anna Fagotti
OBJECTIVE: To investigate whether patients' altered body composition (measured with bioimpedentiometry), due to a poor nutritional status, predicts the incidence of no residual disease at primary debulking and the risk of complications in patients with newly-diagnosed advanced epithelial ovarian cancer (EOC). METHODS: Data regarding patients with newly-diagnosed stage IIIC-IV EOC undergoing elective nutritional assessment between December 2016 and March 2017, were prospectively collected...
March 14, 2018: Gynecologic Oncology
Luca Scotti, Salvatore Genovese, Tonino Bucciarelli, Filippo Martini, Francesco Epifano, Serena Fiorito, Francesca Preziuso, Vito Alessandro Taddeo
An efficient analytical strategy based on different extraction methods of biologically active naturally occurring oxyprenylated umbelliferone and ferulic acid derivatives 7-isopentenyloxycoumarin, auraptene, umbelliprenin, boropinic acid, and 4'-geranyloxyferulic acid and quantification by UHPLC with spectrophotometric (UV/Vis) detection from Tea tree oil is reported. Absorption of the pure oil on Al2 O3 (Brockmann activity II) prior washing the resulting solid with MeOH and treatment of this latter with CH2 Cl2 resulted the best extraction methodology in terms of yields of oxyprenylated secondary metabolites...
March 10, 2018: Journal of Pharmaceutical and Biomedical Analysis
Antonella Sferra, Fabiana Fattori, Teresa Rizza, Elsabetta Flex, Emanuele Bellacchio, Alessandro Bruselles, Stefania Petrini, Serena Cecchetti, Massimo Teson, Fabrizia Restaldi, Andrea Ciolfi, Filippo M Santorelli, Ginevra Zanni, Sabina Barresi, Claudia Castiglioni, Marco Tartaglia, Enrico Bertini
Microtubules participate in fundamental cellular processes, including chromosomal segregation and cell division, migration, and intracellular trafficking. Their proper function is required for correct central nervous system development and operative preservation, and mutations in genes coding tubulins, the constituting units of microtubules, underlie a family of neurodevelopmental and neurodegenerative diseases, collectively known as "tubulinopathies", characterized by a wide range of neuronal defects resulting from defective proliferation, migration, and function...
March 14, 2018: Human Molecular Genetics
Sin Hui Ang, Serena Siew Lin Koh, Xiu Hua Hideka Tamamura Lee, Shefaly Shorey
This study aimed to explore the experiences of adolescents from Singapore, aged 10-18 years old, living with cancer and their perceptions on how their psychosocial outcomes can be improved. A descriptive qualitative study design was used. Convenience sampling was used to recruit 10 participants from a pediatric oncology ward in a Singapore hospital. Individual semi-structured interviews were conducted. Thematic analysis was used to analyze the data. Five major themes emerged: (1) experience of physical symptoms, (2) emotional response to their condition, (3) changes in social dynamics, and (4) falling behind in academics...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
Daniela Sorriento, Gaetano Santulli, Michele Ciccarelli, Angela Serena Maione, Maddalena Illario, Bruno Trimarco, Guido Iaccarino
We have recently demonstrated that the amino-terminal domain of G protein coupled receptor kinase (GRK) type 5, (GRK5-NT) inhibits NFκB activity in cardiac cells leading to a significant amelioration of LVH. Since GRK5-NT is known to bind calmodulin, this study aimed to evaluate the functional role of GRK5-NT in the regulation of calcium-calmodulin-dependent transcription factors. We found that the overexpression of GRK5-NT in cardiomyoblasts significantly reduced the activation and the nuclear translocation of NFAT and its cofactor GATA-4 in response to phenylephrine (PE)...
March 15, 2018: International Journal of Molecular Sciences
Annalisa Trenti, Serena Tedesco, Carlotta Boscaro, Lucia Trevisi, Chiara Bolego, Andrea Cignarella
Estrogen plays an important role in the regulation of cardiovascular physiology and the immune system by inducing direct effects on multiple cell types including immune and vascular cells. Sex steroid hormones are implicated in cardiovascular protection, including endothelial healing in case of arterial injury and collateral vessel formation in ischemic tissue. Estrogen can exert potent modulation effects at all levels of the innate and adaptive immune systems. Their action is mediated by interaction with classical estrogen receptors (ERs), ERα and ERβ, as well as the more recently identified G-protein coupled receptor 30/G-protein estrogen receptor 1 (GPER1), via both genomic and non-genomic mechanisms...
March 15, 2018: International Journal of Molecular Sciences
Serena Indelicato, David Bongiorno, Nicola Tuzzolino, Maria Rosaria Mannino, Rosalia Muscarella, Pasquale Fradella, Maria Elena Gargano, Salvatore Nicosia, Leopoldo Ceraulo
Multivariate analysis was performed on a large data set of groundwater and leachate samples collected during 9 years of operation of the Bellolampo municipal solid waste landfill (located above Palermo, Italy). The aim was to obtain the most likely correlations among the data. The analysis results are presented. Groundwater samples were collected in the period 2004-2013, whereas the leachate analysis refers to the period 2006-2013. For groundwater, statistical data evaluation revealed notable differences among the samples taken from the numerous wells located around the landfill...
March 14, 2018: Environmental Monitoring and Assessment
Emanuela Traini, Rocco Bellantone, Serena Elisa Tempera, Salvatore Russo, Carmela De Crea, Celestino Pio Lombardi, Marco Raffaelli
PURPOSE: Indications and advantages of parathyroidectomy in patients with normocalcemic primary hyperparathyroidism (NHPT) are still matter of debate. We aimed to compare clinical presentation and surgical outcome between normocalcemic and hypercalcemic forms in a consecutive series of patients who underwent parathyroidectomy for primary hyperparathyroidism. METHODS: Data of 731 consecutive patients were reviewed and retrospectively compared according to normocalcemic (group A) and hypercalcemic (group B) phenotypes...
March 14, 2018: Langenbeck's Archives of Surgery
Zhengda Sun, Chih-Yang Wang, Devon A Lawson, Serena Kwek, Hugo Gonzalez Velozo, Mark Owyong, Ming-Derg Lai, Lawrence Fong, Mark Wilson, Hua Su, Zena Werb, Daniel L Cooke
Tumor endothelial cells (TEC) play an indispensible role in tumor growth and metastasis although much of the detailed mechanism still remains elusive. In this study we characterized and compared the global gene expression profiles of TECs and control ECs isolated from human breast cancerous tissues and reduction mammoplasty tissues respectively by single cell RNA sequencing (scRNA-seq). Based on the qualified scRNA-seq libraries that we made, we found that 1302 genes were differentially expressed between these two EC phenotypes...
February 16, 2018: Oncotarget
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