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https://www.readbyqxmd.com/read/28535259/altered-organisation-of-the-intermediate-filament-cytoskeleton-and-relocalisation-of-proteostasis-modulators-in-cells-lacking-the-ataxia-protein-sacsin
#1
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger, Heather D Durham, Bernard Brais, Francesca Maltecca, Benoit J Gentil, J Paul Chapple
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin's physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequences of its loss include neurofilament network abnormalities, specifically accumulation and bundling of perikaryal and dendritic neurofilaments.To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534860/hemophilia-care-in-the-pediatric-age
#2
REVIEW
Marta Bertamino, Francesca Riccardi, Laura Banov, Johanna Svahn, Angelo Claudio Molinari
Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures-for example, tonsillectomy or circumcision...
May 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28534603/biomarkers-for-psoriasis-skin-lesions
#3
Angelo M D'Erme, Francesca Papadia, Joerg Wenzel, Thomas Bieber, Marco Romanelli, Andrea Chiricozzi
Psoriasis is a common, chronic skin disease, whose diagnosis is based mainly on clinical features but, in some cases, can be difficult. As the exact diagnosis of psoriasis and the differential diagnosis with other diseases is crucial for the diagnosis and the therapeutic choice, several studies investigated the relevance of some genes and proteins as potential specific skin biomarkers. Despite a large number of studies, none of them has been tested in large studies and thus achieved regulatory approval and clinical application...
May 23, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28534602/the-management-of-moderate-to-severe-chronic-plaque-psoriasis
#4
Annalisa Tonini, Salvatore Panduri, Angelo M D'Erme, Francesca Papadia, Marco Romanelli, James G Krueger, Andrea Chiricozzi
Recent approval and marketization of novel treatments have widened the range of therapeutic opportunities for moderate-to-severe psoriasis. In the next years, this panorama will be further enlarged as many other agents, both oral small molecules and biologics, have passed phase III and are expected to be approved, and subsequently marketed, shortly. In spite of this array of therapeutic possibilities, there is still an unmet need for an appropriate treatment in a large number of cases. This review was aimed to describe general principles regarding the therapeutic approach to moderate-severe plaque psoriasis, providing an updated overview of the therapeutic armamentarium that is specifically available in Italy, drug prescribility, and some peculiar limitations for reimbursement defined by our National Health Care System...
May 23, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28534485/pseudoexfoliation-syndrome-associated-genetic-variants-affect-transcription-factor-binding-and-alternative-splicing-of-loxl1
#5
Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Shinichi Manabe, Erika Salvi, Paolo Manunta, Daniele Cusi, Christian Gieger, Heinz-Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E Kruse, André Reis, Ursula Schlötzer-Schrehardt
Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features...
May 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28534430/variability-in-axillary-lymph-node-delineation-for-breast-cancer-radiotherapy-in-presence-of-guidelines-on-a-multi-institutional-platform
#6
Delia Ciardo, Angela Argenone, Genoveva Ionela Boboc, Francesca Cucciarelli, Fiorenza De Rose, Maria Carmen De Santis, Alessandra Huscher, Edy Ippolito, Maria Rosa La Porta, Lorenza Marino, Ilaria Meaglia, Isabella Palumbo, Francesca Rossi, Paolo Alpi, Mario Bignardi, Alessio Bonanni, Domenico Cante, Tino Ceschia, Letizia Fabbietti, Marco Lupattelli, Elisa Donatella Mantero, Alessia Monaco, Patrizia Porcu, Vincenzo Ravo, Sonia Silipigni, Angelo Tozzi, Vincenza Umina, Dario Zerini, Luigi Bordonaro, Giorgia Capezzali, Elena Clerici, Sarah Pia Colangione, Michela Dispinzieri, Jessica Dognini, Laura Donadoni, Sara Falivene, Alessandra Fozza, Barbara Grilli, Roberta Guarnaccia, Eva Iannacone, Valentina Lancellotta, Agnese Prisco, Rosalinda Ricotti, Roberto Orecchia, Barbara Alicja Jereczek-Fossa, Maria Cristina Leonardi
AIM: To quantify the variability between radiation oncologists (ROs) when outlining axillary nodes in breast cancer. MATERIAL AND METHODS: For each participating center, three ROs with different levels of expertise, i.e., junior (J), senior (S) and expert (E), contoured axillary nodal levels (L1, L2, L3 and L4) on the CT images of three different patients (P) of an increasing degree of anatomical complexity (from P1 to P2 to P3), according to contouring guidelines...
May 23, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28533974/foraging-behaviour-of-an-egg-parasitoid-exploiting-plant-volatiles-induced-by-pentatomids-the-role-of-adaxial-and-abaxial-leaf-surfaces
#7
Francesca Frati, Antonino Cusumano, Eric Conti, Stefano Colazza, Ezio Peri, Salvatore Guarino, Letizia Martorana, Roberto Romani, Gianandrea Salerno
Several phases of herbivorous insect attack including feeding and oviposition are known to induce plant defenses. Plants emit volatiles induced by herbivores to recruit insect parasitoids as an indirect defense strategy. So far, volatiles induced by herbivore walking and their putative role in the foraging behavior of egg parasitoids have not been investigated. In this paper we studied the response of the egg parasitoid Trissolcus basalis toward volatiles emitted by Vicia faba plants as consequence of the walking activity of the host Nezara viridula...
2017: PeerJ
https://www.readbyqxmd.com/read/28533051/features-of-ipsilateral-renal-recurrences-after-partial-nephrectomy-a-proposal-of-a-pathogenetic-classification
#8
Alessandro Antonelli, Maria Furlan, Regina Tardanico, Simona Fisogni, Mario Sodano, Francesca Carobbio, Sandra Belotti, Alberto Cozzoli, Tiziano Zanotelli, Claudio Simeone
BACKGROUND: Poor data are reported on the pathogenesis of ipsilateral relapse (IR) after partial nephrectomy (PN). The objective of this study was to investigate features of IR after PN with the intention to propose a pathogenetic classification. MATERIALS AND METHODS: Retrospective consultation of an institutional database that stores the data of 683 patients submitted to PN since 1993. The clinical, radiological, and follow-up data of the cases submitted to salvage nephrectomy due to an IR were analyzed...
April 26, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28532646/the-novel-psen1-m84v-mutation-associated-to-frontal-dysexecutive-syndrome-spastic-paraparesis-and-cerebellar-atrophy-in-a-dominant-alzheimer-s-disease-family
#9
Maura Gallo, Francesca Frangipane, Chiara Cupidi, Matteo De Bartolo, Sabina Turone, Camilla Ferrari, Benedetta Nacmias, Giuliana Grimaldi, Valentina Laganà, Rosanna Colao, Livia Bernardi, Maria Anfossi, Maria Elena Conidi, Franca Vasso, Sabrina Anna Maria Curcio, Maria Mirabelli, Nicoletta Smirne, Giusi Torchia, Maria Gabriella Muraca, Gianfranco Puccio, Raffaele Di Lorenzo, Maristella Piccininni, Andrea Tedde, Raffaele Giovanni Maletta, Sandro Sorbi, Amalia Cecilia Bruni
We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome, psychosis and spastic paraparesis in these patients. Spastic paraparesis has been reported in other PSEN1 mutations in adjacent codons, suggesting that the position of the genetic defect may affect the clinical expression, although this phenotype can occur in mutations throughout the whole PSEN1 gene...
April 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28532513/barriers-to-utilisation-of-antenatal-care-services-in-south-sudan-a-qualitative-study-in-rumbek-north-county
#10
Calistus Wilunda, Chiara Scanagatta, Giovanni Putoto, Francesca Montalbetti, Giulia Segafredo, Risa Takahashi, Serge André Mizerero, Ana Pilar Betrán
BACKGROUND: Access to adequate antenatal care (ANC) is critical in ensuring a good maternal health and in preventing maternal and neonatal morbidity and mortality. South Sudan has one of the world's poorest health indicators due to a fragile health system and a combination of socio-cultural, economic, and political factors. This study was conducted to identify barriers to utilisation of ANC services in Rumbek North County. METHODS: Using a qualitative design, data were collected through 14 focus group discussions with 169 women and 45 men and 12 key informant interviews with community leaders, staff working in health facilities, and the staff of the County Health Department...
May 22, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28532225/pneumonia-in-nursing-home-patients-with-advanced-dementia-decisions-intravenous-rehydration-therapy-and-discomfort
#11
Jenny T van der Steen, Paola Di Giulio, Fabrizio Giunco, Massimo Monti, Simona Gentile, Daniele Villani, Silvia Finetti, Francesca Pettenati, Lorena Charrier, Franco Toscani
BACKGROUND: Comfort may be an appropriate goal in advanced dementia. Longitudinal studies on physician decision-making and discomfort assessed by direct observation are rare, and intravenous rehydration therapy is controversial. METHODS: To assess treatment decisions and discomfort in patients with advanced dementia and pneumonia and to compare by intravenous rehydration therapy, we used data from the observational multicenter Italian End of Life Observatory-Prospective Study On DEmentia patients Care...
January 1, 2017: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/28531957/soil-erosion-and-deposition-in-the-new-shorelines-of-the-three-gorges-reservoir
#12
Xiaolei Su, Christer Nilsson, Francesca Pilotto, Songping Liu, Shaohua Shi, Bo Zeng
During the last few decades, the construction of storage reservoirs worldwide has led to the formation of many new shorelines in former upland areas. After the formation of such shorelines, a dynamic phase of soil erosion and deposition follows. We explored the factors regulating soil dynamics in the shorelines of the Three Gorges Reservoir (TGR) on the Yangtze River in China. We selected four study sites on the main stem and three on the tributaries in the upstream parts of the reservoir, and evaluated whether the sites close to the backwater tail (the point at which the river meets the reservoir) had more soil deposition than the sites far from the backwater tail...
May 17, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28531289/management-of-bacteriuria-in-veterans-affairs-hospitals
#13
Emily S Spivak, Muriel Burk, Rongping Zhang, Makoto M Jones, Melinda M Neuhauser, Matthew Bidwell Goetz, Francesca E Cunningham
Background: Bacteriuria contributes to antibiotic overuse through treatment of asymptomatic bacteriuria (ASB) and long durations of therapy for symptomatic urinary tract infections (UTIs), yet large-scale evaluations of bacteriuria management among inpatients are lacking. Methods: Inpatients with bacteriuria were classified as asymptomatic or symptomatic based on established criteria applied to data collected by manual chart review. We examined frequency of treatment of ASB, factors associated with treatment of ASB, durations of therapy, and frequency of complications including Clostridium difficile infection, readmission and all-cause mortality within 28 days of discharge...
May 20, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28531112/effects-of-polyphenols-on-oxidative-stress-mediated-injury-in-cardiomyocytes
#14
REVIEW
Rosanna Mattera, Monica Benvenuto, Maria Gabriella Giganti, Ilaria Tresoldi, Francesca Romana Pluchinotta, Sonia Bergante, Guido Tettamanti, Laura Masuelli, Vittorio Manzari, Andrea Modesti, Roberto Bei
Cardiovascular diseases are the main cause of mortality and morbidity in the world. Hypertension, ischemia/reperfusion, diabetes and anti-cancer drugs contribute to heart failure through oxidative and nitrosative stresses which cause cardiomyocytes nuclear and mitochondrial DNA damage, denaturation of intracellular proteins, lipid peroxidation and inflammation. Oxidative or nitrosative stress-mediated injury lead to cardiomyocytes apoptosis or necrosis. The reactive oxygen (ROS) and nitrogen species (RNS) concentration is dependent on their production and on the expression and activity of anti-oxidant enzymes...
May 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28530795/modelling-living-cells-response-to-surface-tension-and-chemical-patterns
#15
Marco Macis, Francesca Lugli, Francesco Zerbetto
Mechanobiology is an important epigenetic factor. It influences cell functioning and bears on gene induction, protein synthesis, cell growth and differentiation. In the presence of patterned chemical cues, living cells can take shapes that are far from that of a drop of fluid. These shapes are characterized by inward curvatures that are pinned at the points of location of the cues. The mechano-chemical interactions that orchestrate cell behavior is simulated and controlled by modeling the cells as made by parcels of fluid...
May 22, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28530235/hit-and-go-cas9-delivered-through-a-lentiviral-based-self-limiting-circuit
#16
Gianluca Petris, Antonio Casini, Claudia Montagna, Francesca Lorenzin, Davide Prandi, Alessandro Romanel, Jacopo Zasso, Luciano Conti, Francesca Demichelis, Anna Cereseto
In vivo application of the CRISPR-Cas9 technology is still limited by unwanted Cas9 genomic cleavages. Long-term expression of Cas9 increases the number of genomic loci non-specifically cleaved by the nuclease. Here we develop a Self-Limiting Cas9 circuit for Enhanced Safety and specificity (SLiCES) which consists of an expression unit for Streptococcus pyogenes Cas9 (SpCas9), a self-targeting sgRNA and a second sgRNA targeting a chosen genomic locus. The self-limiting circuit results in increased genome editing specificity by controlling Cas9 levels...
May 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/28530042/growing-up-with-perinatal-hiv-changes-in-clinical-outcomes-before-and-after-transfer-to-adult-care-in-the-uk
#17
Ali Judd, Intira Jeannie Collins, Francesca Parrott, Teresa Hill, Sophie Jose, Deborah Ford, Hibo Asad, Diana M Gibb, Caroline Sabin
INTRODUCTION: With improved survival, adolescents with perinatal HIV (PHIV) are transitioning from paediatric to adult care, but there are few published data on clinical outcomes post-transfer. Using linked data from patients in the national UK/Ireland paediatric cohort (CHIPS) and an adult UK cohort of outpatient clinics (UK CHIC), we describe mortality and changes in immunological status post-transfer. METHODS: Participants in CHIPS aged ≥13 years by the end of 2013 were linked to the UK CHIC database...
May 16, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28530019/men1-in-children-and-adolescents-data-from-patients-of-a-regional-referral-center-for-hereditary-endocrine-tumors
#18
Letizia Vannucci, Francesca Marini, Francesca Giusti, Simone Ciuffi, Francesco Tonelli, Maria Luisa Brandi
PURPOSE: To retrospectively evaluate the age of onset of MEN1-associated lesions in a group of affected children and adolescents and to compare the clinical features of our series with the evidence derived from the literature. METHODS: The study population consisted of 22 Italian children and adolescents (age 6-31 years at the time of the inclusion in this study) all with a clinical and/or a genetic diagnosis of MEN1 performed before the age of 16 who have been followed-up regularly from 1998 to 2016 at the Regional Referral Center for Hereditary Endocrine Tumors...
May 22, 2017: Endocrine
https://www.readbyqxmd.com/read/28530005/can-inspection-of-the-mouth-help-clinicians-diagnose-crohn-s-disease-a-review
#19
Giuseppe Troiano, Mario Dioguardi, Luisa Limongelli, Angela Tempesta, Gianfranco Favia, Michele Giuliani, Francesca Sanguedolce, Lorenzo Lo Muzio
PURPOSE: Crohn's disease (CD) is a chronic inflammatory bowel disease characterised by localised areas of nonspecific, noncaseating granulomas. Approximately 1/3 of CD patients develop extraintestinal manifestations in the course of their disease. This review focuses on oral manifestations of CD to understand if oral lesions could help clinicians in the diagnosis of systemic CD. MATERIALS AND METHODS: Literature for the review was retrieved using PubMed Medline, Ebsco Library and Web of Science...
May 19, 2017: Oral Health & Preventive Dentistry
https://www.readbyqxmd.com/read/28529924/regulation-of-cancer-cell-responsiveness-to-ionizing-radiation-treatment-by-cyclic-amp-response-element-binding-nuclear-transcription-factor
#20
REVIEW
Francesca D'Auria, Lucia Centurione, Maria Antonietta Centurione, Antonio Angelini, Roberta Di Pietro
Cyclic AMP response element binding (CREB) protein is a member of the CREB/activating transcription factor (ATF) family of transcription factors that play an important role in the cell response to different environmental stimuli leading to proliferation, differentiation, apoptosis, and survival. A number of studies highlight the involvement of CREB in the resistance to ionizing radiation (IR) therapy, demonstrating a relationship between IR-induced CREB family members' activation and cell survival. Consistent with these observations, we have recently demonstrated that CREB and ATF-1 are expressed in leukemia cell lines and that low-dose radiation treatment can trigger CREB activation, leading to survival of erythro-leukemia cells (K562)...
2017: Frontiers in Oncology
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