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https://www.readbyqxmd.com/read/29240241/okur-chung-neurodevelopmental-syndrome-eight-additional-cases-with-implications-on-phenotype-and-genotype-expansion
#1
A T G Chiu, S L C Pei, C C Y Mak, G K C Leung, M H C Yu, S L Lee, M Vreeburg, R Pfundt, I van der Burgt, T Kleefstra, T M-T Frederic, S Nambot, L Faivre, A-L Bruel, M Rossi, B Isidor, S Küry, B Cogne, T Besnard, M Willems, M R F Reijnders, B H Y Chung
Okur-Chung syndrome is a neurodevelopmental condition attributed to germline CSNK2A1 pathogenic missense variants. We present eight unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with six previously reported cases, we present a case series of seven female and seven male subjects, highlighting the recognizable facial features of the syndrome (microcephaly, hypertelorism, epicanthic fold, ptosis, arched eyebrows, low set ears, ear fold abnormality, broad nasal bridge and round face) as well as frequently occurring clinical features including neurodevelopmental delay (93%), gastrointestinal (57%), musculoskeletal (57%) and immunological (43%) abnormalities...
December 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29239846/molecular-subtypes-of-clear-cell-renal-cell-carcinoma-are-associated-with-outcome-during-pazopanib-therapy-in-the-metastatic-setting
#2
Annelies Verbiest, Gabrielle Couchy, Sylvie Job, Jessica Zucman-Rossi, Laure Caruana, Evelyne Lerut, Raymond Oyen, Aurélien de Reyniès, Brigitte Laguerre, Nathalie Rioux-Leclercq, Agnieszka Wozniak, Steven Joniau, Hendrik Van Poppel, Kathleen Van Den Eynde, Benoit Beuselinck
BACKGROUND: We previously described 4 molecular subtypes of metastatic clear cell renal cell carcinoma (mccRCC), named ccrcc1-4 (Beuselinck et al, 2015). These have both prognostic and predictive value for patients treated with first-line sunitinib, with distinctive objective response rate (ORR), progression-free survival (PFS), and overall survival (OS). The ccrcc2 and ccrcc3 tumors have the best outcomes, followed by ccrcc1 and then ccrcc4. We hypothesized that these molecular subtypes would show similar outcomes with first-line pazopanib treatment...
November 7, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29239316/design-and-criteria-of-electrospun-fibrous-scaffolds-for-the-treatment-of-spinal-cord-injury
#3
REVIEW
Barbara Vigani, Silvia Rossi, Giuseppina Sandri, Maria Cristina Bonferoni, Franca Ferrari
The complex pathophysiology of spinal cord injury may explain the current lack of an effective therapeutic approach for the regeneration of damaged neuronal cells and the recovery of motor functions. Many efforts have been performed to design and develop suitable scaffolds for spinal cord regeneration, keeping in mind that the reconstruction of a pro-regenerative environment is the key challenge for an effective neurogenesis. The aim of this review is to outline the main features of an ideal scaffold, based on biomaterials, produced by the electrospinning technique and intended for the spinal cord regeneration...
November 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29239234/adoption-of-in-vitro-systems-and-zebrafish-embryos-as-alternative-models-for-reducing-rodent-use-in-assessments-of-immunological-and-oxidative-stress-responses-to-nanomaterials
#4
Helinor J Johnston, Rachel Verdon, Suzanne Gillies, David M Brown, Teresa F Fernandes, Theodore B Henry, Adriano G Rossi, Lang Tran, Carl Tucker, Charles R Tyler, Vicki Stone
Assessing the safety of engineered nanomaterials (NMs) is paramount to the responsible and sustainable development of nanotechnology, which provides huge societal benefits. Currently, there is no evidence that engineered NMs cause detrimental health effects in humans. However, investigation of NM toxicity using in vivo, in vitro, in chemico, and in silico models has demonstrated that some NMs stimulate oxidative stress and inflammation, which may lead to adverse health effects. Accordingly, investigation of these responses currently dominates NM safety assessments...
December 14, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/29239031/molecular-alterations-of-neuroendocrine-tumours-of-the-lung
#5
REVIEW
Giulio Rossi, Luca Bertero, Caterina Marchiò, Mauro Papotti
Neuroendocrine tumours of the lung comprise low [typical carcinoid (TC)], intermediate [atypical carcinoid (AC)] and high-grade [small-cell lung cancer (SCLC) and large-cell neuroendocrine carcinoma (LCNEC)] malignancies, while a pre-invasive lesion [diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)] may generate a subset of peripheral carcinoid tumours. These neoplasms are differentiated conventionally based on mitotic rate, presence of necrosis and cytological details, according to the 2015 World Health Organisation (WHO) classification...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29238217/effects-of-voluntary-exercise-on-blood-pressure-angiotensin-ii-aldosterone-and-renal-function-in-two-kidney-one-clip-hypertensive-rats
#6
Brian M Waldman, Robert A Augustyniak, Haiping Chen, Noreen F Rossi
Spontaneous dynamic exercise promotes sympathoinhibition and decreases arterial pressure in two-kidney, one-clip (2K-1C) hypertensive rats. Renal sympathetic nerves stimulate renin secretion and increase renal tubular sodium reabsorption. We hypothesized that daily voluntary wheel running exercise by 2K-1C rats will decrease mean arterial pressure (MAP), plasma angiotensin II (Ang II), and aldosterone as well as normalize urinary sodium and potassium excretion independent of changes in glomerular filtration rate (GFR)...
2017: Integrated Blood Pressure Control
https://www.readbyqxmd.com/read/29237774/quantitative-multiplexed-imaging-analysis-reveals-a-strong-association-between-immunogen-specific-b-cell-responses-and-tonsillar-germinal-center-immune-dynamics-in-children-after-influenza-vaccination
#7
Donato Amodio, Nicola Cotugno, Giulia Macchiarulo, Salvatore Rocca, Yiannis Dimopoulos, Maria Rita Castrucci, Rita De Vito, Filippo M Tucci, Adrian B McDermott, Sandeep Narpala, Paolo Rossi, Richard A Koup, Paolo Palma, Constantinos Petrovas
Generation of Ag-specific humoral responses requires the orchestrated development and function of highly specialized immune cells in secondary lymphoid organs. We used a multiparametric approach combining flow cytometry, confocal microscopy, and histocytometry to analyze, for the first time to our knowledge in children, tonsils from seasonal influenza-vaccinated children. We used these novel imaging assays to address the mucosal immune dynamics in tonsils investigating the spatial positioning, frequency, and phenotype of immune cells after vaccination...
December 13, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29236853/pollen-morphology-and-viability-in-bromeliaceae
#8
Everton H Souza, Fernanda V D Souza, Mônica L Rossi, Renan M Packer, Maria Amelia V Cruz-Barros, Adriana P Martinelli
Pollen morphology characterization is important in taxonomy, conservation and plant breeding, and pollen viability studies can support breeding programs. This study investigated pollen morphology and male fertility in 18 species of Bromeliaceae with ornamental potential. For morphological characterization, pollen grains were acetolyzed and characterization of exine was done using scanning and transmission electron microscopy. Pollen viability was investigated by in vitro germination and histochemical tests...
December 7, 2017: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/29234595/ibrutinib-as-a-bridge-to-transplant-in-high-risk-chronic-lymphocytic-leukemia-a-case-report-and-review-of-the-literature
#9
Arcari Annalisa, Bassi Simona, Pochintesta Lara, Trabacchi Elena, Moroni Carlo Filippo, Rossi Angela, Zanlari Luca, Vallisa Daniele
The treatment landscape of chronic lymphocytic leukemia (CLL) has been challenged by the advent of novel classes of drugs, such as B-cell receptor (BCR)-inhibitors and BCL-2 antagonists. In selected high-risk patients, the choice to start allogeneic hematopoietic stem cell transplantation (alloHCT) or continue these agents is a matter of debate. Furthermore, published data about the impact on the feasibility of alloHCT and the optimal timing of administration are limited. Here we present a case of relapsed TP53 mutated CLL treated with ibrutinib as a bridge to alloHCT, discussing risks and benefits of different treatment options in a "real life" situation...
2017: Leukemia Research Reports
https://www.readbyqxmd.com/read/29234555/spinal-and-peripheral-dry-needling-versus-peripheral-dry-needling-alone-among-individuals-with-a-history-of-lateral-ankle-sprain-a-randomized-controlled-trial
#10
Ainsley Rossi, Sara Blaustein, Joshua Brown, Kari Dieffenderfer, Elaine Ervin, Steven Griffin, Elizabeth Frierson, Kathleen Geist, Marie Johanson
Background: In addition to established interventions, dry needling may reduce impairments leading to greater functional abilities for individuals following ankle sprain. Hypothesis/Purpose: The purpose of this study was to compare effects of spinal and peripheral dry needling (DN) with peripheral DN alone on impairments and functional performance among individuals with a history of lateral ankle sprain. Study Design: Randomized controlled trial...
December 2017: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/29234102/endometrial-apoptosis-and-neutrophil-infiltration-during-menstruation-exhibits-spatial-and-temporal-dynamics-that-are-recapitulated-in-a-mouse-model
#11
Gregory M Armstrong, Jacqueline A Maybin, Alison A Murray, Moira Nicol, Catherine Walker, Philippa T K Saunders, Adriano G Rossi, Hilary O D Critchley
Menstruation is characterised by synchronous shedding and restoration of tissue integrity. An in vivo model of menstruation is required to investigate mechanisms responsible for regulation of menstrual physiology and to investigate common pathologies such as heavy menstrual bleeding (HMB). We hypothesised that our mouse model of simulated menstruation would recapitulate the spatial and temporal changes in the inflammatory microenvironment of human menses. Three regulatory events were investigated: cell death (apoptosis), neutrophil influx and cytokine/chemokine expression...
December 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29231279/copper-sulphate-forms-in-piglet-diets-microbiota-intestinal-morphology-and-enteric-nervous-system-glial%C3%A2-cells
#12
Alessia Di Giancamillo, Raffaella Rossi, Piera Anna Martino, Lucia Aidos, Federica Maghin, Cinzia Domeneghini, Carlo Corino
The objective of this study was to evaluate dietary supplementation with different copper sulphate (CuSO4 ) forms on small intestine microanatomy and large intestine microbiota. Ninety weaned piglets were divided into three experimental groups: control diet (CTR), with no added CuSO4 and diets supplemented with 150 ppm of CuSO4 in protected (150P) and unprotected form (150UP). After 18 days of dietary treatment, six piglets per treatment were randomly selected and sacrificed. Duodenum villi length and crypt depths were higher (P < 0...
December 12, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/29230387/hyperpigmentation-of-the-hard-palate-mucosa-in-a-patient-with-chronic-myeloid-leukaemia-taking-imatinib
#13
Gian Paolo Bombeccari, Umberto Garagiola, Francesco Pallotti, Margherita Rossi, Massimo Porrini, Aldo Bruno Giannì, Francesco Spadari
Background: Imatinib mesylate is an inhibitor of the tyrosine kinase Bcr-Abl and a first-line treatment for Philadelphia chromosome-positive chronic myeloid leukaemia (CML). Dermatological side effects include superficial oedema, pustular eruption, lichenoid reactions, erythroderma, and skin rash. Depigmentation of the skin and/or mucosa is uncommon, and hyperpigmentation is rare. Case presentation: We present the case of a 63-year-old Caucasian male with widespread hyperpigmentation of the hard palate associated with a 9-year history of imatinib therapy to treat CML...
December 2017: Maxillofacial Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29229943/visible-emission-from-bismuth-doped-yttrium-oxide-thin-films-for-lighting-and-display-applications
#14
Adriana Scarangella, Filippo Fabbri, Riccardo Reitano, Francesca Rossi, Francesco Priolo, Maria Miritello
Due to the great development of light sources for several applications from displays to lighting, great efforts are devoted to find stable and efficient visible emitting materials. Moreover, the requirement of Si compatibility could enlarge the range of applications inside microelectronic chips. In this scenario, we have studied the emission properties of bismuth doped yttrium oxide thin films grown on crystalline silicon. Under optical pumping at room temperature a stable and strong visible luminescence has been observed...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29229820/beta-oscillations-reflect-supramodal-information-during-perceptual-judgment
#15
Saskia Haegens, José Vergara, Román Rossi-Pool, Luis Lemus, Ranulfo Romo
Previous work on perceptual decision making in the sensorimotor system has shown population dynamics in the beta band, corresponding to the encoding of stimulus properties and the final decision outcome. Here, we asked how oscillatory dynamics in the medial premotor cortex (MPC) contribute to supramodal perceptual decision making. We recorded local field potentials (LFPs) and spikes in two monkeys trained to perform a tactile-acoustic frequency discrimination task, including both unimodal and crossmodal conditions...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29229744/three-reportedly-unrelated-families-with-liddle-syndrome-inherited-from-a-common-ancestor
#16
Luca Pagani, Yoan Diekmann, Marco Sazzini, Sara De Fanti, Maurizio Rondinelli, Enrico Farnetti, Bruno Casali, Amelia Caretto, Francesca Novara, Orsetta Zuffardi, Paolo Garagnani, Franco Mantero, Mark G Thomas, Donata Luiselli, Ermanno Rossi
Liddle syndrome is considered a rare Mendelian hypertension. We have previously described 3 reportedly unrelated families, native of an Italian area around the Strait of Messina, carrying the same mutation (βP617L) of the epithelial sodium channel. The aims of our study were (1) to evaluate whether a close genomic relationship exists between the 3 families through the analysis of mitochondrial DNA and Y chromosome; and (2) to quantify the genomic relatedness between the patients with Liddle syndrome belonging to the 3 families and assess the hypothesis of a mutation shared through identity by descent...
December 11, 2017: Hypertension
https://www.readbyqxmd.com/read/29229742/adrenal-vein-sampling-is-the-preferred-method-to-select-patients-with-primary-aldosteronism-for-adrenalectomy-pro-side-of-the-argument
#17
Gian Paolo Rossi, John W Funder
No abstract text is available yet for this article.
December 11, 2017: Hypertension
https://www.readbyqxmd.com/read/29229579/investigation-of-the-pulsatility-of-cerebrospinal-fluid-using-cardiac-gated-intravoxel-incoherent-motion-imaging
#18
Anton S Becker, Andreas Boss, Markus Klarhoefer, Tim Finkenstaedt, Moritz C Wurnig, Cristina Rossi
The quantitative and non-invasive monitoring of cerebrospinal fluid (CSF) dynamics and composition may have high clinical relevance in the management of CSF disorders. In this study, we propose the use of the Intravoxel Incoherent Motion (IVIM) MRI for obtaining simultaneous measurements of CSF self-diffusion and fluid circulation. The rationale for this study was that turbulent fluid and mesoscopic fluid fluctuations can be modeled in a first approximation as a fast diffusion process. In this case, we expect that the fast fluid circulation and slower molecular diffusion dynamics can be quantified, assuming a bi-exponential attenuation pattern of the diffusion-weighted signal in MRI...
December 8, 2017: NeuroImage
https://www.readbyqxmd.com/read/29229466/prospective-double-blind-randomized-controlled-trial-comparing-electrocoagulation-and-radiofrequency-in-the%C3%A2-treatment-of-patients-with-great-saphenous-vein-insufficiency-and-lower-limb-varicose-veins
#19
Camila Baumann Beteli, Fábio Henrique Rossi, Bruno Lorenção de Almeida, Nilo Mitsuru Izukawa, Cybelle Bossolani Onofre Rossi, Sthefano Atique Gabriel, Antônio Massamitsu Kambara, Amanda Guerra de Moraes Rego Sousa, Patricia Thorpe
OBJECTIVE: Thermoablation has been replacing conventional surgery in the surgical treatment of great saphenous vein (GSV) reflux in patients with lower limb varicose veins; however, thermoablation is expensive. Intravenous electrocoagulation (EC) may, selectively and safely, cause necrosis of the GSV wall, but the clinical results have never been studied. The objective of this study was to compare EC and radiofrequency ablation (RFA) in the treatment of GSV insufficiency, considering efficacy, complications, and effect on quality of life...
December 8, 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29228803/in-vitro-human-placental-studies-to-support-an-adenovirus-mediated-vegf-d%C3%AE-n%C3%AE-c-maternal-gene-therapy-for-the-treatment-of-severe-early-onset-fetal-growth-restriction
#20
Michelle Desforges, Alexandra Rogue Rogue, Nick Pearson, Carlo Rossi, Elena Olearo, Roy Forster, Mark Lees, Neil Sebire, Susan Greenwood, Colin Sibley, Anna L David, Paul Brownbill
Severe fetal growth restriction (FGR) affects 1:500 pregnancies, is untreatable and causes serious neonatal morbidity and death. Reduced uterine blood flow (UBF) is one cause. Transduction of uterine arteries in normal and FGR animal models using an adenovirus (Ad) encoding VEGF isoforms, increases UBF and improves fetal growth in utero. Understanding potential adverse consequences of this therapy before first-in-woman clinical application is essential. OBJECTIVE: To determine whether Ad...
December 11, 2017: Human Gene Therapy. Clinical Development
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