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https://www.readbyqxmd.com/read/29330522/the-racgap-%C3%AE-chimaerin-is-essential-for-cerebellar-granule-cell-migration
#1
Jason A Estep, Wenny Wong, Yiu-Cheung E Wong, Brian M Loui, Martin M Riccomagno
During mammalian cerebellar development, postnatal granule cell progenitors proliferate in the outer part of the External Granule Layer (EGL). Postmitotic granule progenitors migrate tangentially in the inner EGL before switching to migrate radially inward, past the Purkinje cell layer, to achieve their final position in the mature Granule Cell Layer (GCL). Here, we show that the RacGAP β-chimaerin is expressed by a small population of late-born, premigratory granule cells. β-chimaerin deficiency causes a subset of granule cells to become arrested in the EGL, where they differentiate and form ectopic neuronal clusters...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29322488/difficulties-with-fine-motor-skills-and-cognitive-impairment-in-an-elderly-population-the-progetto-veneto-anziani
#2
Chiara Curreri, Caterina Trevisan, Pamela Carrer, Silvia Facchini, Valter Giantin, Stefania Maggi, Marianna Noale, Marina De Rui, Egle Perissinotto, Sabina Zambon, Gaetano Crepaldi, Enzo Manzato, Giuseppe Sergi
OBJECTIVES: To investigate dysfunction in fine motor skills in a cohort of older Italian adults, identifying their prevalence and usefulness as indicators and predictors of cognitive impairment. DESIGN: Population-based longitudinal study with mean follow-up of 4.4 years. SETTING: Community. PARTICIPANTS: Older men and women enrolled in the Progetto Veneto Anziani (Pro.V.A.) (N = 2,361); 1,243 subjects who were cognitively intact at baseline were selected for longitudinal analyses...
January 11, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29317485/meis1-coordinates-cerebellar-granule-cell-development-by-regulating-pax6-transcription-bmp-signaling-and-atoh1-degradation
#3
Tomoo Owa, Shinichiro Taya, Satoshi Miyashita, Mariko Yamashita, Toma Adachi, Koyo Yamada, Miwa Yokoyama, Shogo Aida, Tomoki Nishioka, Yukiko U Inoue, Ryo Goitsuka, Takuro Nakamura, Takayoshi Inoue, Kozo Kaibuchi, Mikio Hoshino
Cerebellar granule cell precursors (GCPs) and granule cells (GCs) represent good models to study neuronal development. Here we report that the transcription factor, Meis1, plays pivotal roles to regulate mouse GC development. We found that Meis1 is expressed in granule cell lineage cells and astrocytes in the cerebellum during development. Targeted disruption of the Meis1 gene specifically in the GC lineage resulted in smaller cerebella with disorganized lobules. Knockdown/knockout experiments for Meis1 as well as in vitro assays show that Meis1 binds to an upstream sequence of Pax6 to enhance its transcription in GCPs/GCs and further suggested that the Meis1-Pax6 cascade regulates morphology of GCPs/GCs during development...
January 9, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29317454/casein-kinase-1-is-a-therapeutic-target-in-chronic-lymphocytic-leukemia
#4
Pavlina Janovska, Jan Verner, Jiri Kohoutek, Lenka Bryjova, Michaela Gregorova, Marta Dzimkova, Hana Skabrahova, Tomasz Radaszkiewicz, Petra Ovesna, Olga Vondalova Blanarova, Tereza Nemcova, Zuzana Hoferova, Katerina Vasickova, Lucie Smyckova, Alexander Egle, Sarka Pavlova, Lucie Poppova, Karla Plevova, Sarka Pospisilova, Vitezslav Bryja
Casein kinase (CK) 1δ/ε is a key component of non-canonical Wnt signaling pathways, which were shown previously to drive pathogenesis of chronic lymphocytic leukemia (CLL). In this study we investigated thoroughly the effects of CK1δ/ε inhibition on the primary CLL cells and analyzed the therapeutic potential in vivo using two murine model systems based on the Eµ-TCL1-induced leukemia (syngeneic adoptive transfer model and spontaneous disease development), which resemble closely the human CLL. We can demonstrate that CK1δ/ε inhibitor PF-670462 significantly blocks microenvironmental interactions - chemotaxis, invasion and communication with stromal cells in primary CLL cells in all major subtypes of CLL...
January 9, 2018: Blood
https://www.readbyqxmd.com/read/29315238/on-the-tautomerism-of-n-substituted-pyrazolones-1-2-dihydro-3h-pyrazol-3-ones-versus-1h-pyrazol-3-ols
#5
Eglė Arbačiauskienė, Sonata Krikštolaitytė, Aiva Mitrulevičienė, Aurimas Bieliauskas, Vytas Martynaitis, Matthias Bechmann, Alexander Roller, Algirdas Šačkus, Wolfgang Holzer
The tautomerism of 1-phenyl-1,2-dihydro-3H-pyrazol-3-One was investigated. An X-ray crystal structure analysis exhibits dimers of 1-phenyl-1H-pyrazol-3-ol units. Comparison of NMR (nuclear magnetic resonance) spectra in liquid state (¹H, 13C, 15N) with those of "fixed" derivatives, as well as with the corresponding solid state NMR spectra reveal this compound to exist predominantly as 1H-pyrazol-3-ol molecule pairs in nonpolar solvents like CDCl₃ or C₆D₆, whereas in DMSO-d₆ the corresponding monomers are at hand...
January 9, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#6
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29280860/mbn-2016-aesthetic-breast-meeting-bia-alcl-consensus-conference-report
#7
Maurizio Bruno Nava, William P Adams, Giovanni Botti, Antonella Campanale, Giuseppe Catanuto, Mark W Clemens, Daniel A Del Vecchio, Roy De Vita, Arianna Di Napoli, Elisabeth Hall-Findlay, Dennis Hammond, Per Heden, Patrick Mallucci, Josè Luis Martin Del Yerro, Egle Muti, Alberto Rancati, Charles Randquist, Marzia Salgarello, Constantin Stan, Nicola Rocco
Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is an uncommon neoplasia occurring in women with either cosmetic or reconstructive breast implants. The actual knowledge about BIA-ALCL deriving from the literature presents several limits, and it remains difficult to make inferences about BIA-ALCL epidemiology, cause, and pathogenesis. This is the reason why the authors decided to organize an evidence-based consensus conference during the Maurizio Bruno Nava (MBN 2016) Aesthetic Breast Meeting held in Milan in December of 2016...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29250200/update-on-squamous-cell-carcinoma-of-the-head-and-neck-asco-annual-meeting-2017
#8
REVIEW
Teresa Magnes, Alexander Egle, Richard Greil, Thomas Melchardt
At the annual ASCO meeting clinically relevant data concerning the management of advanced head and neck cancer that will influence clinical practice in the future were presented. Chemoradiation with high-dose cisplatin remains the mainstay of treatment for patients with locally advanced squamous cell head and neck cancer. Adjuvant therapy with afatinib following chemoradiation failed to show clinical benefit. The combination of bevacizumab with platinum-based chemotherapy improved progression-free survival but did not lead to a significant difference in overall survival compared to chemotherapy alone...
2017: Memo
https://www.readbyqxmd.com/read/29249940/propofol-exposure-in-early-life-induced-developmental-impairments-in-the-mouse-cerebellum
#9
Rui Xiao, Dan Yu, Xin Li, Jing Huang, Sheng Jing, Xiaohang Bao, Tiande Yang, Xiaotang Fan
Propofol is a widely used anesthetic in the clinic while several studies have demonstrated that propofol exposure may cause neurotoxicity in the developing brain. However, the effects of early propofol exposure on cerebellar development are not well understood. Propofol (30 or 60 mg/kg) was administered to mice on postnatal day (P)7; Purkinje cell dendritogenesis and Bergmann glial cell development were evaluated on P8, and granule neuron migration was analyzed on P10. The results indicated that exposure to propofol on P7 resulted in a significant reduction in calbindin-labeled Purkinje cells and their dendrite length...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29243686/bone-augmentation-and-simultaneous-soft-tissue-thickening-with-collagen-tissue-matrix-derivate-membrane-in-an-aesthetic-area-a-case-report
#10
Algirdas Puišys, Saulius Žukauskas, Ričardas Kubilius, Eglė Vindašiūtė, Tomas Linkevičius
Aesthetic implant restoration in the anterior maxilla is a challenge for clinicians. Alveolar ridge and surrounding gingiva deficiencies aggravates implant placement in the aesthetic area. This case report describes a technique for aesthetic single implant placement with simultaneous bone grafting and soft tissue thickening. At the time of implant surgery, allogenic (Maxgraft, Botiss Biomaterials, Germany) and xenogenic bone substitute (Cerabone, Botiss Biomaterials, Germany) was used for bone grafting, soft tissues were augmented simultaneously with collagen tissue matrix derivate membrane (Mucoderm, Botiss Biomaterials, Germany)...
2017: Stomatologija
https://www.readbyqxmd.com/read/29243683/the-comparison-of-cement-and-screw-retained-crowns-from-technical-and-biological-points-of-view
#11
Aira Ragauskaitė, Gediminas Žekonis, Juozas Žilinskas, Alvydas Gleiznys, Eglė Ivanauskienė, Darius Gleiznys
OBJECTIVE: The aim of this review was to evaluate the most common complications in implant prosthodontics with porcelain-fused-to-metal crowns, to evaluate the influence of biomechanical properties on fractures and cracks of veneered porcelain, and to compare the effects of crowns with different connections on soft tissues. MATERIAL AND METHODS: A search of literature in the English language between 2009 and 2015 was conducted using the following databases: Medline via PubMed, Science Direct, Wiley online library, Taylor& Francis, and Cochrane library...
2017: Stomatologija
https://www.readbyqxmd.com/read/29243678/the-relationship-between-pathological-wear-of-teeth-and-temporomandibular-joint-dysfunction
#12
Egle Mickeviciute, Ausra Baltrusaityte, Gaivile Pileicikiene
OBJECTIVE: Temporomandibular joint dysfunction (TMJD) is quite frequent pathology in population. In scientific literature pathological tooth wear (PTW) is listed among the predisposing factors of it. MATERIAL AND METHODS: During the survey 189 primary patients of dental department in polyclinic of Panevezys city were examined. According to the tooth wear degree 2 groups have been formed: control group (grade 0-1) withouth TMJ dysfunction; and experimental group (grade 2-4) with presumable TMJD...
2017: Stomatologija
https://www.readbyqxmd.com/read/29232876/evaluation-of-fibrin-based-interpenetrating-polymer-networks-as-potential-biomaterials-for-tissue-engineering
#13
Olfat Gsib, Jean-Luc Duval, Mathieu Goczkowski, Marie Deneufchatel, Odile Fichet, Véronique Larreta-Garde, Sidi Ahmed Bencherif, Christophe Egles
Interpenetrating polymer networks (IPNs) have gained great attention for a number of biomedical applications due to their improved properties compared to individual components alone. In this study, we investigated the capacity of newly-developed naturally-derived IPNs as potential biomaterials for tissue engineering. These IPNs combine the biologic properties of a fibrous fibrin network polymerized at the nanoscale and the mechanical stability of polyethylene oxide (PEO). First, we assessed their cytotoxicity in vitro on L929 fibroblasts...
December 10, 2017: Nanomaterials
https://www.readbyqxmd.com/read/29227694/pulsed-electric-field-assisted-sensitization-of-multidrug-resistant-candida-albicans-to-antifungal-drugs
#14
Vitalij Novickij, Jurgita Švedienė, Algimantas Paškevičius, Svetlana Markovskaja, Irutė Girkontaitė, Auksė Zinkevičienė, Eglė Lastauskienė, Jurij Novickij
AIM: Determine the influence of pH on the inactivation efficiency of C. albicans in pulsed electric fields (PEF) and evaluate the possibilities for sensitization of a drug-resistant strain to antifungal drugs. MATERIALS & METHODS: The effects of PEF (2.5-25 kVcm-1) with fluconazole, terbinafine and naftifine were analyzed at a pH range of 3.0-9.0. Membrane permeabilization was determined by flow cytometry and propidium iodide. RESULTS: PEF induced higher inactivation of C...
December 11, 2017: Future Microbiology
https://www.readbyqxmd.com/read/29223745/buparlisib-plus-fulvestrant-in-postmenopausal-women-with-hormone-receptor-positive-her2-negative-advanced-breast-cancer-progressing-on-or-after-mtor-inhibition-belle-3-a-randomised-double-blind-placebo-controlled-phase-3-trial
#15
Angelo Di Leo, Stephen Johnston, Keun Seok Lee, Eva Ciruelos, Per E Lønning, Wolfgang Janni, Ruth O'Regan, Marie-Ange Mouret-Reynier, Dimitar Kalev, Daniel Egle, Tibor Csőszi, Roberto Bordonaro, Thomas Decker, Vivianne C G Tjan-Heijnen, Sibel Blau, Alessio Schirone, Denis Weber, Mona El-Hashimy, Bharani Dharan, Dalila Sellami, Thomas Bachelot
BACKGROUND: Activation of the PI3K/AKT/mTOR pathway occurs frequently in breast cancer that is resistant to endocrine therapy. Approved mTOR inhibitors effectively inhibit cell growth and proliferation but elicit AKT phosphorylation via a feedback activation pathway, potentially leading to resistance to mTOR inhibitors. We evaluated the efficacy and safety of buparlisib plus fulvestrant in patients with advanced breast cancer who were pretreated with endocrine therapy and mTOR inhibitors...
December 6, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/29214595/health-systems-sustainability-and-rare-diseases
#16
Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio
The paper is addressing aspects of health system sustainability for rare diseases in relation to the current economic crisis and equity concerns. It takes into account the results of the narrative review carried out in the framework of the Joint Action for Rare Diseases (Joint RD-Action) "Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases", that identified networks as key factors for health systems sustainability for rare diseases. The legal framework of European Reference Networks and their added value is also presented...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29178733/the-role-of-adhesive-materials-and-oral-biofilm-in-the-failure-of-adhesive-resin-restorations
#17
REVIEW
Roberto Pinna, Paolo Usai, Enrica Filigheddu, Franklin Garcia-Godoy, Egle Milia
PURPOSE: To critically discuss adhesive materials and oral cariogenic biofilm in terms of their potential relevance to the failures of adhesive restorations in the oral environment. METHODS: The literature regarding adhesive restoration failures was reviewed with particular emphasis on the chemistry of adhesive resins, weakness in dentin bonding, water fluids, cariogenic oral biofilm and the relations that influence failures. Particular attention was paid to evidence derived from clinical studies...
October 2017: American Journal of Dentistry
https://www.readbyqxmd.com/read/29156704/ackr3-expression-on-diffuse-large-b-cell-lymphoma-is-required-for-tumor-spreading-and-tissue-infiltration
#18
Viola Puddinu, Sabrina Casella, Egle Radice, Sylvia Thelen, Stefan Dirnhofer, Francesco Bertoni, Marcus Thelen
Diffuse large B cell lymphoma (DLBCL) is the most frequent lymphoma accounting for more than the 30% of the cases. Involvement of extranodal sites, such as bone marrow and central nervous system, is associated with poor prognosis. A contribution of the chemokine system in these processes is assumed as it is known as a critical regulator of the metastatic process in cancer. The atypical chemokine receptor 3 (ACKR3), which does not couple to G-proteins and does not mediate cell migration, acts as a scavenger for CXCL11 and CXCL12, interfering with the tumor homing CXCL12/CXCR4 axis...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#19
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathological studies are performed to prove, localize, treat, and monitor disease progression. Recently, improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (less than 1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29144447/bcat1-restricts-%C3%AE-kg-levels-in-aml-stem-cells-leading-to-idhmut-like-dna-hypermethylation
#20
Simon Raffel, Mattia Falcone, Niclas Kneisel, Jenny Hansson, Wei Wang, Christoph Lutz, Lars Bullinger, Gernot Poschet, Yannic Nonnenmacher, Andrea Barnert, Carsten Bahr, Petra Zeisberger, Adriana Przybylla, Markus Sohn, Martje Tönjes, Ayelet Erez, Lital Adler, Patrizia Jensen, Claudia Scholl, Stefan Fröhling, Sibylle Cocciardi, Patrick Wuchter, Christian Thiede, Anne Flörcken, Jörg Westermann, Gerhard Ehninger, Peter Lichter, Karsten Hiller, Rüdiger Hell, Carl Herrmann, Anthony D Ho, Jeroen Krijgsveld, Bernhard Radlwimmer, Andreas Trumpp
The branched-chain amino acid (BCAA) pathway and high levels of BCAA transaminase 1 (BCAT1) have recently been associated with aggressiveness in several cancer entities. However, the mechanistic role of BCAT1 in this process remains largely uncertain. Here, by performing high-resolution proteomic analysis of human acute myeloid leukaemia (AML) stem-cell and non-stem-cell populations, we find the BCAA pathway enriched and BCAT1 protein and transcripts overexpressed in leukaemia stem cells. We show that BCAT1, which transfers α-amino groups from BCAAs to α-ketoglutarate (αKG), is a critical regulator of intracellular αKG homeostasis...
November 16, 2017: Nature
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