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https://www.readbyqxmd.com/read/30517737/comprehensive-study-of-the-clinical-phenotype-of-germline-bap1-variant-carrying-families-worldwide
#1
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet, Erin Garfield, Ching-Ni Njauw, Mitchell Cheung, Joni A Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J Jager, Gregorius P M Luyten, Marina Marinkovic, Cindy Chau, Miriam Potrony, Veronica Höiom, Hildur Helgadottir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R Speicher, Natasha van Poppelen, Emine Kilic, Rana'a T Al-Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J O'Shea, Julia Newton-Bishop, Julian Adlard, David J Adams, Anne-Marie Lane, Ivana Kim, Sonja Klebe, Hilary Racher, J William Harbour, Michael L Nickerson, Rajmohan Murali, Jane M Palmer, Madeleine Howlie, Judith Symmons, Hayley Hamilton, Sunil Warrier, William Glasson, Peter Johansson, Carla Daniela Robles-Espinoza, Raul Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero T Kivelä, Hensin Tsao, Joseph R Testa, Pedram Gerami, Marc-Henri Stern, Brigitte Bressac-de Paillerets, Mohamed H Abdel-Rahman, Nicholas K Hayward
Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors...
December 4, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/30517657/high-risk-human-papillomavirus-in-semen-is-associated-with-poor-sperm-progressive-motility-and-a-high-sperm-dna-fragmentation-index-in-infertile-men
#2
Luca Boeri, Paolo Capogrosso, Eugenio Ventimiglia, Filippo Pederzoli, Walter Cazzaniga, Francesco Chierigo, Edoardo Pozzi, Massimo Clementi, Paola Viganò, Emanuele Montanari, Francesco Montorsi, Andrea Salonia
STUDY QUESTION: Does the presence of human papillomavirus (HPV) in semen impact seminal parameters and sperm DNA quality in white European men seeking medical help for primary couple's infertility? SUMMARY ANSWER: HPV seminal infections involving high-risk (HR) genotypes are associated with impaired sperm progressive motility and sperm DNA fragmentation (SDF) values. WHAT IS KNOWN ALREADY: HPV is commonly present in semen samples. However, whether the presence of HPV in semen is actually associated with impaired sperm parameters and SDF values have yet to be elucidated...
December 4, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30517486/photoanthropometry-of-the-face-in-the-young-white-brazilian-population
#3
Paola Sampaio Gonzales, Carlos Eduardo Palhares Machado, Edgard Michel-Crosato
The aim of the present study is to describe the simplified facial pattern of young Brazilian men and women using the facial index (FI), upper face index (UFI), and nasal index (NI) in indirect anthropometric measurements applied to frontal photographic images. The images were obtained from 660 adult white men and 689 adult white women aged 30 years ± 6 months, and classified according to regions of birth, as follows: south (S), southeast (SE), midwest (MW), northeast (NE), and north (N). The nasion, zygion, gnathion, stomion, subnasale, and alare landmarks were labeled on the images using the SAFF 2D® software...
November 2018: Brazilian Dental Journal
https://www.readbyqxmd.com/read/30517135/bird-diversity-along-elevational-gradients-in-the-dry-tropical-andes-of-northern-chile-the-potential-role-of-aymara-indigenous-traditional-agriculture
#4
Paola Araneda, Walter Sielfeld, Cristián Bonacic, José Tomás Ibarra
Understanding diversity patterns along environmental gradients lies at the heart of community ecology and conservation. Previous studies have found variation in bird diversity and density along "natural" elevational gradients in the Tropical Andes Hotspot. However, there is still a lack of knowledge about how bird communities respond to traditional land-use patterns, in association with other multiple drivers, along elevations. In the present study, we investigated biotic, abiotic and anthropogenic sources of variation associated with bird species diversity, density and turnover along a 3000-m elevational gradient, in southern limit of the Tropical Andes Hotspot, northern Chile...
2018: PloS One
https://www.readbyqxmd.com/read/30516878/water-and-sodium-chloride-essential-ingredients-for-robust-and-fast-pd-catalysed-cross-coupling-reactions-between-organolithiums-and-hetero-aryl-halides
#5
Giuseppe Dilauro, Andrea Francesca Quivelli, Paola Vitale, Vito Capriati, Filippo Perna
Direct palladium-catalysed cross-couplings between organolithiums and (hetero)aryl halides (Br, Cl) proceed fast, cleanly and selectively at room temperature in air, with water as the only reaction medium and in the presence of NaCl as a cheap additive. Under optimised reaction conditions, a water-accelerated catalysis is responsible for furnishing Csp3-Csp2, Csp2-Csp2, and Csp-Csp2 cross-coupled products, competitively with protonolysis, within a 20 s reaction time, in yields of up to 99%, and in the absence of undesired dehalogenated/homocoupling side-products even if it starts from challenging secondary organolithiums...
December 5, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/30516761/a-novel-cck2-gastrin-receptor-localizing-radiolabeled-peptide-probe-for-personalized-diagnosis-and-therapy-of-patients-with-progressive-or-metastatic-medullary-thyroid-carcinoma-gran-t-mtc-a-multicenter-phase-i-study
#6
Paola Anna Erba, Helmut Maecke, Renata Mikołajczak, Clemens Decristoforo, Katja Zaletel, Theodosia Maina-Nock, Petra Kolenc Peitl, Piotr Garnuszek, Alida Froberg, Georg Goebel, Marion de Jong, Agata Jabrocka-Hybel, Mark Konijnenberg, Irena Virgolini, Berthold Nock, Wioletta Lenda-Tracz, Dariusz Pawlak, Christine Rangger, Małgorzata Trofimiuk-Müldner, Anna Sowa-Staszczak, Monika Tomaszuk, Elisabeth von Guggenberg, Lorenza Scarpa, Alicja Hubalewska-Dydejczyk
No abstract text is available yet for this article.
December 5, 2018: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/30516439/structure-gating-and-regulation-of-the-cftr-anion-channel
#7
László Csanády, Paola Vergani, David C Gadsby
The cystic fibrosis transmembrane conductance regulator (CFTR) belongs to the ATP binding cassette (ABC) transporter superfamily but functions as an anion channel crucial for salt and water transport across epithelial cells. CFTR dysfunction, because of mutations, causes cystic fibrosis (CF). The anion-selective pore of the CFTR protein is formed by its two transmembrane domains (TMDs) and regulated by its cytosolic domains: two nucleotide binding domains (NBDs) and a regulatory (R) domain. Channel activation requires phosphorylation of the R domain by cAMP-dependent protein kinase (PKA), and pore opening and closing (gating) of phosphorylated channels is driven by ATP binding and hydrolysis at the NBDs...
January 1, 2019: Physiological Reviews
https://www.readbyqxmd.com/read/30515955/the-duration-of-infertility-affects-semen-parameters-in-primary-infertile-men-results-of-a-single-centre-cross-sectional-study
#8
Luca Boeri, Eugenio Ventimiglia, Paolo Capogrosso, Angela Pecoraro, Filippo Pederzoli, Walter Cazzaniga, Edoardo Pozzi, Massimo Alfano, Paola Viganò, Emanuele Montanari, Francesco Montorsi, Andrea Salonia
OBJECTIVE: To assess the relationship between the duration of infertility (DI) and the seminal parameters of a cohort of White-European primary infertile men. PATIENTS AND METHODS: Data from 1644 infertile men were analysed. Patients were grouped according to the self-reported DI into 12-month time frames. Semen analysis values were assessed based on 2010 World Health Organisation reference criteria. Descriptive statistics tested the difference in clinical, hormonal and seminal parameters between groups...
December 4, 2018: BJU International
https://www.readbyqxmd.com/read/30515583/decoration-of-nanovesicles-with-ph-low-insertion-peptide-phlip-for-targeted-delivery
#9
Federica Rinaldi, Patrizia N Hanieh, Elena Del Favero, Valeria Rondelli, Paola Brocca, Mohan C Pereira, Oleg A Andreev, Yana K Reshetnyak, Carlotta Marianecci, Maria Carafa
Acidity at surface of cancer cells is a hallmark of tumor microenvironments, which does not depend on tumor perfusion, thus it may serve as a general biomarker for targeting tumor cells. We used the pH (low) insertion peptide (pHLIP) for decoration of liposomes and niosomes. pHLIP senses pH at the surface of cancer cells and inserts into the membrane of targeted cells, and brings nanomaterial to close proximity of cellular membrane. DMPC liposomes and Tween 20 or Span 20 niosomes with and without pHLIP in their coating were fully characterized in order to obtain fundamental understanding on nanocarrier features and facilitate the rational design of acidity sensitive nanovectors...
December 4, 2018: Nanoscale Research Letters
https://www.readbyqxmd.com/read/30514749/multiorgan-accelerated-silicosis-misdiagnosed-as-sarcoidosis-in-two-workers-exposed-to-quartz-conglomerate-dust
#10
Gabriella Guarnieri, Rosana Bizzotto, Ottorino Gottardo, Emanuela Velo, Mauro Cassaro, Stefania Vio, Maria Grazia Putzu, Federica Rossi, Paolo Zuliani, Filippo Liviero, Paola Mason, Piero Maestrelli
INTRODUCTION: Clusters of silicosis cases have been reported in the fabrication of quartz conglomerate, a new high-silica-content artificial stone for kitchen and bathroom benchtops (countertops). AIM: We describe two cases of accelerated-type silicosis with hepatic granulomas arising in workers exposed to artificial quartz conglomerates. METHODS: A confident diagnosis of multiorgan silicosis was based on high level of respirable silica in the workplace, typical radiological alterations in chest high-resolution CT, histological findings in the lung and liver, and detection of silica crystals in both tissues by phase-contrast polarising light microscopy and scanning electron microscopy and energy dispersive spectroscopy...
December 4, 2018: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/30514366/species-delimitation-based-on-mtdna-genes-suggests-the-occurrence-of-new-species-of-mesocestoides-in-the-mediterranean-region
#11
Antonio Varcasia, Daria Sanna, Marco Casu, Samia Lahmar, Giorgia Dessì, Anna Paola Pipia, Claudia Tamponi, Gabriella Gaglio, Gabriela Hrčková, Domenico Otranto, Antonio Scala
BACKGROUND: This study is the first contribution to the molecular taxonomy of Mesocestoides spp. from domestic and wild carnivores in the Mediterranean area. A total of 13 adult worms and 13 larval stages of Mesocestoides spp. were collected from domestic and wild carnivore hosts in Italy and Tunisia. Samples collected in the Slovak Republic were used as comparative samples from outside the Mediterranean. The genes cytochrome c oxidase subunit 1 (cox1) and NADH dehydrogenase subunit 1 (nad1) of the mitochondrial genome were used as molecular markers to investigate the presence of cryptic Mesocestoides species in the area analysed...
December 4, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/30514308/association-of-kidney-disease-measures-with-risk-of-renal-function-worsening-in-patients-with-type-1-diabetes
#12
Antonio Mirijello, Francesca Viazzi, Paola Fioretto, Carlo Giorda, Antonio Ceriello, Giuspina T Russo, Pietro Guida, Roberto Pontremoli, Salvatore De Cosmo
BACKGROUND: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage ≥3 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage ≥3 CKD in a large cohort of patients affected by T1DM...
December 4, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/30514139/laparoscopic-reversible-occlusion-of-uterine-arteries-and-cornuostomy-for-advanced-interstitial-pregnancy
#13
Simone Garzon, Antonio Simone Laganà, Paola Pomini, Ricciarda Raffaelli, Fabio Ghezzi, Massimo Franchi
During laparoscopic enucleation of an interstitial pregnancy, adequate hemostatic control is of paramount importance due to the high vascularization of the uterine cornus. However, no consensus or guidance exists regarding the optimal hemostatic technique. We report laparoscopic reversible uterine arteries occlusion as hemostatic technique during laparoscopic enucleation by cornuostomy of an interstitial pregnancy at advanced gestational age (46 × 40 mm gestational sac). Preliminary identification of the uterine arteries and bilateral reversible occlusion by Hem-o-Lok clips allowed bleeding control during surgery...
December 4, 2018: Minimally Invasive Therapy & Allied Technologies: MITAT
https://www.readbyqxmd.com/read/30513996/genetic-and-epigenetic-modifiers-of-alcoholic-liver-disease
#14
REVIEW
Marica Meroni, Miriam Longo, Raffaela Rametta, Paola Dongiovanni
Alcoholic liver disease (ALD), a disorder caused by excessive alcohol consumption is a global health issue. More than two billion people consume alcohol in the world and about 75 million are classified as having alcohol disorders. ALD embraces a wide spectrum of hepatic lesions including steatosis, alcoholic steatohepatitis (ASH), fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). ALD is a complex disease where environmental, genetic, and epigenetic factors contribute to its pathogenesis and progression...
December 3, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30513858/novel-findings-about-double-loaded-curcumin-in-hp%C3%AE-cyclodextrin-in-liposomes-effects-on-the-lipid-bilayer-and-drug-release
#15
Ana-María Fernández-Romero, Francesca Maestrelli, Paola Angela Mura, Antonio María Rabasco, María Luisa González-Rodríguez
In this study, the encapsulation of curcumin (Cur) in "drug-in-cyclodextrin-in-liposomes (DCL)" by following the double-loading technique (DL) was proposed, giving rise to DCL⁻DL. The aim was to analyze the effect of cyclodextrin (CD) on the physicochemical, stability, and drug-release properties of liposomes. After selecting didodecyldimethylammonium bromide (DDAB) as the cationic lipid, DCL⁻DL was formulated by adding 2-hydroxypropyl-α/β/γ-CD (HPβCD)⁻Cur complexes into the aqueous phase...
December 3, 2018: Pharmaceutics
https://www.readbyqxmd.com/read/30513818/thromboxane-dependent-platelet-activation-in-obese-subjects-with-prediabetes-or-early-type-2-diabetes-effects-of-liraglutide-or-lifestyle-changes-induced-weight-loss
#16
Paola Simeone, Rossella Liani, Romina Tripaldi, Augusto Di Castelnuovo, Maria Teresa Guagnano, Armando Tartaro, Riccardo C Bonadonna, Virginia Federico, Francesco Cipollone, Agostino Consoli, Francesca Santilli
Thromboxane (TX)-dependent platelet activation and lipid peroxidation, as reflected in vivo by the urinary excretion of 11-dehydro-TXB₂ and 8-iso-prostaglandin (PG)F2α , play a key role in atherothrombosis in obesity and type 2 diabetes mellitus (T2DM) since the earlier stages. Thirty-five metformin-treated obese subjects with prediabetes or newly-diagnosed T2DM were randomized to the glucagon-like peptide receptor agonist (GLP-RA) liraglutide (1.8 mg/day) or lifestyle counseling until achieving a comparable weight loss (-7% of initial body weight), to assess whether changes in subcutaneous (SAT) and visceral (VAT) adipose tissue distribution (MRI), insulin sensitivity (Matsuda Index) and beta-cell performance (multiple sampling OGTT beta-index), with either intervention, might affect TX-dependent platelet activation, lipid peroxidation and inflammation...
December 2, 2018: Nutrients
https://www.readbyqxmd.com/read/30513799/complementary-feeding-practices-in-a-cohort-of-italian-late-preterm-infants
#17
Maria L Giannì, Elena Bezze, Lorenzo Colombo, Camilla Rossetti, Nicola Pesenti, Paola Roggero, Patrizio Sannino, Salvatore Muscolo, Laura Plevani, Fabio Mosca
Limited data are available on complementary feeding in preterm infants, who show increased nutritional needs and are at risk of altered postnatal growth. The aim of this study was to investigate the timing and content of complementary feeding in a cohort of late preterm infants. We conducted a prospective, observational study, including mothers who had given birth to infants admitted to level I or II of care with a gestational age between 34 and 36 weeks. Mothers were contacted at 3, 6 and 12 months after delivery by phone calls and were asked about their infant's mode of feeding and the timing and schedule of the introduction of different solid foods types...
December 2, 2018: Nutrients
https://www.readbyqxmd.com/read/30513596/propranolol-promotes-glucose-dependence-and-synergizes-with-dichloroacetate-for-anti-cancer-activity-in-hnscc
#18
Christopher T Lucido, W Keith Miskimins, Paola D Vermeer
Tumor cell metabolism differs from that of normal cells, conferring tumors with metabolic advantages but affording opportunities for therapeutic intervention. Accordingly, metabolism-targeting therapies have shown promise. However, drugs targeting singular metabolic pathways display limited efficacy, in part due to the tumor's ability to compensate by using other metabolic pathways to meet energy and growth demands. Thus, it is critical to identify novel combinations of metabolism-targeting drugs to improve therapeutic efficacy in the face of compensatory cellular response mechanisms...
November 30, 2018: Cancers
https://www.readbyqxmd.com/read/30513302/ambra1-controls-regulatory-t-cell-differentiation-and-homeostasis-upstream-of-the-foxo3-foxp3-axis
#19
Juliane Becher, Luca Simula, Elisabetta Volpe, Claudio Procaccini, Claudia La Rocca, Pasquale D'Acunzo, Valentina Cianfanelli, Flavie Strappazzon, Ignazio Caruana, Francesca Nazio, Gerrit Weber, Vincenzo Gigantino, Gerardo Botti, Fabiola Ciccosanti, Giovanna Borsellino, Silvia Campello, Georgia Mandolesi, Marco De Bardi, Gian Maria Fimia, Marcello D'Amelio, Francesca Ruffini, Roberto Furlan, Diego Centonze, Gianvito Martino, Paola Braghetta, Martina Chrisam, Paolo Bonaldo, Giuseppe Matarese, Franco Locatelli, Luca Battistini, Francesco Cecconi
Regulatory T cells (Treg ) are necessary to maintain immunological tolerance and are key players in the control of autoimmune disease susceptibility. Expression of the transcription factor FOXP3 is essential for differentiation of Treg cells and indispensable for their suppressive function. However, there is still a lack of knowledge about the mechanisms underlying its regulation. Here, we demonstrate that pro-autophagy protein AMBRA1 is also a key modulator of T cells, regulating the complex network that leads to human Treg differentiation and maintenance...
December 3, 2018: Developmental Cell
https://www.readbyqxmd.com/read/30513138/meropenem-and-ciprofloxacin-in-complicated-gastric-surgery-for-cancer-patients-a-simple-spe-uhplc-pda-method-for-their-determination-in-human-plasma
#20
Vincenzo Ferrone, Roberto Cotellese, Annadomenica Cichella, Paolo Raimondi, Maura Carlucci, Paola Palumbo, Giuseppe Carlucci
A simple and rapid ultra high-performance liquid chromatographic (UHPLC) for the simultaneous determination of meropenem and ciprofloxacin in human plasma was developed and validate. All the analytes were separated in less than 5 min. A solid-phase extraction method was applied from samples preparation. Analytical separation was performed on a Poroshell SB C18 column (50 x 2.1 mm, 2.7 μm particle size) with PDA detection. Meropenem and ciprofloxacin were carried out at a wavelength 300 and 277 nm, respectively...
December 4, 2018: Biomedical Chromatography: BMC
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