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Alexandra Doncarli, Virginie Demiguel, Irina Guseva Canu, Véronique Goulet, Sophie Bayart, Thierry Calvez, Sabine Castet, Vincent Dalibard, Yohan Demay, Birgit Frotscher, Jenny Goudemand, Thierry Lambert, Vanessa Milien, Caroline Oudot, Thomas Sannié, Hervé Chambost
FranceCoag is an ongoing open prospective multicentre cohort project aimed at improving epidemiological knowledge about inherited bleeding disorders in France. The main objective of this article was to evaluate the project's progress as of the 30th December 2016. Between 1994 and this date, of the 10,047 patients included in the study, 384 (3.8%) were reported by clinicians to have died and 159 (1.6%) to be lost to follow-up. Among the remaining 9504 patients still being followed up, 5748 (60.5%) had haemophilia A, 1300 (13...
December 5, 2018: European Journal of Epidemiology
Makwese Johannes Maepa, Cornelius Canu Ssemakulu, Keolebogile Shirley Caroline M Motaung
Articular cartilage defects are common, causing significant pain and morbidities. To date, tissue engineering techniques using adipose-derived mesenchymal stem cells have offered a promising modality for cartilage repair. In this study, we investigated the effects of Eucomis autumnalis (E. autumnalis) aqueous crude extracts in porcine adipose-derived mesenchymal stem cells (pADMSCs) to determine whether they can differentiate pADMSCs into chondrocytes. Porcine ADMSCs were prepared and treated with different concentrations of E...
December 4, 2018: Tissue Engineering. Part A
A Rosso, L Beuck, A Vertino, R Sanfilippo, A Freiwald
Four cribrilinid bryozoans associated with deep-water corals (578-682 m depth) from the Great Bahama Bank slope, are described, two of them are new. The generic allocation of some species prompted us to raise the subgenera Puellina, Cribrilaria, and Glabrilaria to genus rank. The new combination Cribrilaria saginata (Winston, 2005) n. comb. is proposed. Genus Glabrilaria is reported from the NW Atlantic for the first time based on the description of Glabrilaria hirsuta Rosso n. sp. and Glabrilaria polita Rosso n...
November 23, 2018: Zootaxa
Giada Poli, Carmen Ruggiero, Giulia Cantini, Letizia Canu, Gianna Baroni, Roberta Armignacco, Anne Jouinot, Raffaella Santi, Tonino Ercolino, Bruno Ragazzon, Guillaume Assie, Massimo Mannelli, Gabriella Nesi, Enzo Lalli, Michaela Luconi
CONTEXT: Novel tumor markers are urgently needed to better stratify adrenocortical cancer (ACC) patients and improve therapies for this aggressive neoplasm. OBJECTIVE: To assess the diagnostic and prognostic value of the actin-bundling protein fascin-1 (FSCN1) in adrenocortical tumors. DESIGN, SETTING AND PARTICIPANTS: A local series of 37 malignant/37 benign adrenocortical tumors at Careggi University Hospital and two independent validation ACC cohorts (Cochin, TCGA) from the European Network for the Study of Adrenal Tumors were studied...
November 23, 2018: Journal of Clinical Endocrinology and Metabolism
Andrea Naldi, Piergiorgio Lochner, Piera Canu, Roberto Settembre, Simona Alessi, Sandro Sanguigni
No abstract text is available yet for this article.
November 20, 2018: Ultraschall in der Medizin
Maxime Delcour, Michaël Russier, Francis Castets, Nathalie Turle-Lorenzo, Marie-Hélène Canu, Florence Cayetanot, Mary F Barbe, Jacques-Olivier Coq
Motor control and body representations in the central nervous system are built, i.e., patterned, during development by sensorimotor experience and somatosensory feedback/reafference. Yet, early emergence of locomotor disorders remains a matter of debate, especially in the absence of brain damage. For instance, children with developmental coordination disorders (DCD) display deficits in planning, executing and controlling movements, concomitant with deficits in executive functions. Thus, are early sensorimotor atypicalities at the origin of long-lasting abnormal development of brain anatomy and functions? We hypothesize that degraded locomotor outcomes in adulthood originate as a consequence of early atypical sensorimotor experiences that induce developmental disorganization of sensorimotor circuitry...
November 5, 2018: Scientific Reports
Letizia Canu, Janna A W Van Hemert, Michiel Kerstens, Robert P Hartman, Aakanksha Khanna, Ivana Kraljevic, Darko Kastelan, Corin Badiu, Urszula Ambroziak, Antoine Tabarin, Magalie Haissaguerre, Edward Buitenwerf, Anneke Visser, Massimo Mannelli, Wiebke Arlt, Vasileios Chortis, Isabelle Bourdeau, Nadia Gagnon, Marie Buchy, Francoise Borson-Chazot, Timo Deutschbein, Martin Fassnacht, H Alicja Hubalewska Dydejczyk, Marcin Motyka, Ewelina Rzepka, Ruth T Casey, Benjamin G Challis, Marcus Quinkler, Laurent Vroonen, Ariadni Spyroglou, Felix Beuschlein, Cristina Lamas, William F Young, Irina Bancos, Henri J L M Timmers
Background: Up to 7% of all adrenal incidentalomas (AIs) are pheochromocytomas (PCCs). In the evaluation of AI, it is generally recommended to exclude PCC by measurement plasma free or 24h urinary fractionated metanephrines. However, recent studies suggest to abstain from biochemical exclusion of PCC in cases of lesions with computed tomography (CT) characteristics of an adrenocortical adenoma (ACA). Aim: To determine the proportion of PCCs with ACA-like attenuation or contrast washout on CT...
October 31, 2018: Journal of Clinical Endocrinology and Metabolism
Ana C S Almeida, Facelucia B C Souza, Jamile Farias, Orane F S Alves, Leandro M Vieira
As sessile organisms, bryozoans are among the commonest components of the encrusting communities on hard substrata. On unconsolidated bottoms, benthic animals and their carapaces, including mollusk shells, represent potential surfaces for encrustation. Here we describe the bryozoan fauna growing on disarticulated bivalve shells collected intertidally on Itaparica beach, Todos os Santos Bay, northeast Brazil. We examined a total of 382 valves representing seven species of bivalves, among which we found 82 valves of three bivalve species to be encrusted by bryozoans, with 109 bryozoan colonies detected overall...
June 18, 2018: Zootaxa
Luca Mattioli, Antonio Canu, Daniela Passilongo, Massimo Scandura, Marco Apollonio
Background: Density estimation is a key issue in wildlife management but is particularly challenging and labour-intensive for elusive species. Recently developed approaches based on remotely collected data and capture-recapture models, though representing a valid alternative to more traditional methods, have found little application to species with limited morphological variation. We implemented a camera trap capture-recapture study to survey wolf packs in a 560-km2 area of Central Italy...
2018: Frontiers in Zoology
Enrico Erdas, Gian Luigi Canu, Luca Gordini, Paolo Mura, Giulia Laconi, Giuseppe Pisano, Fabio Medas, Pietro Giorgio Calò
Postoperative diaphragmatic hernia (PDH) is an increasingly reported complication of esophageal cancer surgery. PDH occurs more frequently when minimally invasive techniques are employed, but very little is known about its pathogenesis. Currently, no consensus exists concerning preventive measures and its management. A 71-year-old man underwent minimally invasive esophagectomy for esophageal cancer. Three months later, he developed a giant PDH, which was repaired by direct suture via laparoscopic approach. A hypertensive pneumothorax occurred during surgery...
2018: Case Reports in Surgery
Daniele Bottai, Marco Spreafico, Anna Pistocchi, Grazia Fazio, Raffaella Adami, Paolo Grazioli, Adriana Canu, Cinzia Bragato, Silvia Rigamonti, Chiara Parodi, Gianni Cazzaniga, Andrea Biondi, Franco Cotelli, Angelo Selicorni, Valentina Massa
Cornelia de Lange Syndrome (CdLS), which is reported to affect about 1 in 10,000 to 30,000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition.Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL (nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (RAD21 Cohesin Complex Component), and HDAC8 (Histone deacetylase 8)...
September 14, 2018: Human Molecular Genetics
Dina Visca, Letizia Mori, Vicky Tsipouri, Sharon Fleming, Ashi Firouzi, Matteo Bonini, Matthew J Pavitt, Veronica Alfieri, Sara Canu, Martina Bonifazi, Cristina Boccabella, Angelo De Lauretis, Carmel J W Stock, Peter Saunders, Andrew Montgomery, Charlotte Hogben, Anna Stockford, Margaux Pittet, Jo Brown, Felix Chua, Peter M George, Philip L Molyneaux, Georgios A Margaritopoulos, Maria Kokosi, Vasileios Kouranos, Anne Marie Russell, Surinder S Birring, Alfredo Chetta, Toby M Maher, Paul Cullinan, Nicholas S Hopkinson, Winston Banya, Jennifer A Whitty, Huzaifa Adamali, Lisa G Spencer, Morag Farquhar, Piersante Sestini, Athol U Wells, Elisabetta A Renzoni
BACKGROUND: In fibrotic interstitial lung diseases, exertional breathlessness is strongly linked to health-related quality of life (HRQOL). Breathlessness is often associated with oxygen desaturation, but few data about the use of ambulatory oxygen in patients with fibrotic interstitial lung disease are available. We aimed to assess the effects of ambulatory oxygen on HRQOL in patients with interstitial lung disease with isolated exertional hypoxia. METHODS: AmbOx was a prospective, open-label, mixed-method, crossover randomised controlled clinical trial done at three centres for interstitial lung disease in the UK...
August 28, 2018: Lancet Respiratory Medicine
Katrin Zurfluh, Marc J A Stevens, Roger Stephan, Magdalena Nüesch-Inderbinen
OBJECTIVES: Carbapenem-resistant Escherichia coli have emerged worldwide and represent a major challenge to effective healthcare management. Here we report the genome sequence of an NDM-5- and CTX-M-15-producing E. coli belonging to sequence type 617 isolated from wastewater treatment plant effluent in Switzerland. METHODS: Whole-genome sequencing of E. coli 657SK2 was performed using Pacific Biosciences (PacBio) single-molecule real-time (SMRT) technology RS2 reads (C4/P6 chemistry)...
August 24, 2018: Journal of Global Antimicrobial Resistance
Francesco Brigo, Franco Alessandrini, Giammario Ragnedda, Piera Canu, Veronica Tavernelli, Arianna Bratti, Raffaele Nardone
Ictal strabismus, sometimes associated with epileptic nystagmus, is an extremely rare epileptic phenomenon, suggestive of cortical involvement in monocular eye movement control. We describe a patient with ictal disconjugate contraversive horizontal eye deviation of cortical origin as the main clinical feature of a focal seizure. A 17-year-old, previously healthy woman had a seizure characterized by initial rightward conjugate eye deviation, followed by convergent strabismus due to adduction of the right eye towards the nose without conjugate left eye abduction (esotropia), forced leftward head deviation with impaired awareness, and subsequent evolution into a bilateral tonic-clonic seizure...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Rosa M Paragliola, Rosa M Lovicu, Giampaolo Papi, Ettore Capoluongo, Angelo Minucci, Giulia Canu, Alfredo Pontecorvi, Salvatore M Corsello
RET (REarranged during Transfection) proto-oncogene variants are essential for the development of familial and sporadic forms of medullary thyroid carcinoma (MTC). The most frequent variants are usually located in exons 10, 11, and 13 through 16 of the RET gene. We report two cases of apparently sporadic MTC associated with the variant in exon 2 of RET gene. Patient 1, a 62-year old man who had undergone adrenalectomy for a 5 cm pheochromocytoma, was screened for type 2 multiple endocrine neoplasia (MEN 2) which showed elevated basal and post-intravenous calcium gluconate calcitonin levels...
2018: Frontiers in Endocrinology
Erica Dugnani, Valentina Pasquale, Paolo Marra, Daniela Liberati, Tamara Canu, Laura Perani, Francesco De Sanctis, Stefano Ugel, Francesca Invernizzi, Antonio Citro, Massimo Venturini, Claudio Doglioni, Antonio Esposito, Lorenzo Piemonti
Background: The widely-used genetically engineered mouse LSL-KrasG12D/+;LSL-Trp53R172H/+;Pdx-1-Cre, termed KPC, spontaneously develops pancreatic cancer mirroring all phases of the carcinogenesis but in asynchronous manner. Preclinical studies need defined criteria for the enrollment of the KPC sharing the same stage of carcinogenesis. Aim: To define a tumor staging criteria using magnetic resonance and ultrasound and then to correlate the imaging stage with overall survival of KPC mice...
July 24, 2018: Carcinogenesis
Yuchen Zhang, Shusheng Zhou
OBJECTIVES: Acinetobacter pittii carrying the blaNDM-1 gene is frequently reported in the world recently, however most of the blaNDM-1 genes are located on plasmids. Here we report a multidrug-resistant (MDR) A. pittii isolated in China co-harbouring blaNDM-1 , blaOXA-421 and blaAmpC in the genome. METHODS: Bacterial genomic DNA was extracted using the cetyl trimethylammonium bromide (CTAB) method. Whole-genome sequencing of A. pittii was performed using an Illumina MiSeq system (2×251bp) in combination with PacBio single-molecule real-time (SMRT) sequencing...
July 20, 2018: Journal of Global Antimicrobial Resistance
Federica Agosta, Gorana Mandic-Stojmenovic, Elisa Canu, Tanja Stojkovic, Francesca Imperiale, Francesca Caso, Elka Stefanova, Massimiliano Copetti, Vladimir S Kostic, Massimo Filippi
This study identified structural and functional brain connectivity alterations in two independent samples of patients along the posterior cortical atrophy (PCA) disease course. Twenty-one PCA patients and 44 controls were recruited from two expert centres. Microstructural damage of white matter (WM) tracts was assessed using probabilistic tractography; resting state (RS) functional connectivity of brain networks was explored using a model free approach; grey matter (GM) atrophy was investigated using voxel-based morphometry...
2018: NeuroImage: Clinical
Umberto Arena, Morton Barlaz, Pinjing He, Ing I D'Adamo, Sergi Astals, Jean E Bogner, Stephanie C Bolyard, Jorge Manuel Caliço Lopes de Brito, Paolo S Calabrò, Paolo Canu, Christina Chroni, Bill Clarke, Hervé Corvellec, Giulia Costa, Malcolm Richard Gent, Antonio Gallardo Izquierdo, Jacek A Koziel, Nuno Lapa, Bo Leckner, Lidia Lombardi, Massimiliano Materazzi, Hans Oonk, Kostyantyn Pivnenko, Krishna R Reddy, Hans van der Sloot, Jan-Olov Sundqvist, Fabio Tatàno, Timothy Townsend, David Turner, Juergen Vehlow, Tianfeng Wang, Yongjiang Wang, Jim White, Yang Zeng, Christian Zurbrügg
No abstract text is available yet for this article.
July 2018: Waste Management
Jacques-Olivier Coq, Maxime Delcour, Yuko Ogawa, Julie Peyronnet, Francis Castets, Nathalie Turle-Lorenzo, Valérie Montel, Laurence Bodineau, Phillipe Cardot, Cécile Brocard, Sylvie Liabeuf, Bruno Bastide, Marie-Hélène Canu, Masahiro Tsuji, Florence Cayetanot
Intrauterine ischemia-hypoxia is detrimental to the developing brain and leads to white matter injury (WMI), encephalopathy of prematurity (EP), and often to cerebral palsy (CP), but the related pathophysiological mechanisms remain unclear. In prior studies, we used mild intrauterine hypoperfusion (MIUH) in rats to successfully reproduce the diversity of clinical signs of EP, and some CP symptoms. Briefly, MIUH led to inflammatory processes, diffuse gray and WMI, minor locomotor deficits, musculoskeletal pathologies, neuroanatomical and functional disorganization of the primary somatosensory and motor cortices, delayed sensorimotor reflexes, spontaneous hyperactivity, deficits in sensory information processing, memory and learning impairments...
2018: Frontiers in Neurology
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