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991.
992.
Dioguardi Mario Alovisi Mario Troiano Giuseppe Caponio Carlo Vito Alberto Baldi Andrea Rocca Giovanni Tommaso Comba Allegra Lo Muzio Lorenzo Scotti Nicola 《Clinical oral investigations》2021,25(12):6597-6621
Clinical Oral Investigations - The survival rate of indirect partial adhesive restorations on vital versus endodontically treated teeth is still controversial. The hypothesis is that there may be a... 相似文献
993.
Miriam Schmidts Valeska Frank Tobias Eisenberger Saeed al Turki Albane A. Bizet Dinu Antony Suzanne Rix Christian Decker Nadine Bachmann Martin Bald Tobias Vinke Burkhard Toenshoff Natalia Di Donato Theresa Neuhann Jane L. Hartley Eamonn R. Maher Radovan Bogdanovi Amira Peco‐Anti Christoph Mache Matthew E. Hurles Ivana Joksi Marija Gu‐eki Jelena Dobricic Mirjana Brankovic‐Magic Hanno J. Bolz Gregory J. Pazour Philip L. Beales Peter J. Scambler Sophie Saunier Hannah M. Mitchison Carsten Bergmann 《Human mutation》2013,34(5):714-724
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib‐polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer‐Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by mutations in intraflagellar transport (IFT) genes affecting the primary cilia, which play a crucial role in skeletal and chondral development. Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer‐Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. We also found an enrichment of rare IFT140 alleles in JATD compared with nonciliopathy diseases, implying putative modifier effects for certain alleles. IFT140 patients presented with mild chest narrowing, but all had end‐stage renal failure under 13 years of age and retinal dystrophy when examined for ocular dysfunction. This is consistent with the severe cystic phenotype of Ift140 conditional knockout mice, and the higher level of Ift140 expression in kidney and retina compared with the skeleton at E15.5 in the mouse. IFT140 is therefore a major cause of cono‐renal syndromes (JATD and MSS). The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy. 相似文献
994.
Laura Kropp Anish Baswanth Chakka Svetlana Yatsenko Eleonora Di Gregorio Daniela Lacerenza Giovanna Vaula Flavia Talarico Paola Mandich Camilo Toro Eleonore Eymard Pierre Pierre Labauge Sabina Capellari Pietro Cortelli Filippo Pinto Vairo Diego Miguel Danielle Stubbolo Lourenco Charles Marques William Gahl Odile Boespflug‐Tanguy Atle Melberg Sharon Hassin‐Baer Oren S. Cohen Rastislav Pjontek Armin Grau Thomas Klopstock Brent Fogel Inge Meijer Guy Rouleau Jean‐Pierre L. Bouchard Madhavi Ganapathiraju Adeline Vanderver Niklas Dahl Grace Hobson Alfredo Brusco Quasar Saleem Padiath 《Human mutation》2013,34(8):1160-1171
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication‐based mechanisms such fork stalling and template switching or microhomology‐mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele‐specific LMNB1 expression levels. 相似文献
995.
996.
S. Rusconi P. Vitiello F. Adorni B. Bruzzone A. De Luca V. Micheli P. Meraviglia R. Maserati M. Di Pietro G. Colao G. Penco A. Di Biagio G. Punzi L. Monno M. Zazzi 《Clinical microbiology and infection》2013,19(10):936-942
Raltegravir (RAL) is the only licensed human immunodeficiency virus (HIV) integrase inhibitor. The factors associated with the virological response to RAL-containing regimens and the prevalence of integrase mutations associated with RAL failure deserve further investigation. From the Antiretroviral Resistance Cohort Analysis database, we selected triple-class-experienced subjects failing their current treatment with complete treatment history available. Selection criteria included HIV-RNA, CD4 count and HIV genotype within 3 months of RAL initiation. Factors associated with 24-week response were analysed; genotypic sensitivity scores (GSS) and weighted-GSS were evaluated. Virological response was achieved in 74.3% of 105 subjects. Mutations associated with RAL failure were detected in 12/24 subjects with an integrase genotype, with the prevalence of Q148H + G140S. Each extra unit of GSS (p 0.05, OR 2.62; 95% CI 1.00–6.87). was found to be a associated with response. Weighted-GSS had borderline statistical significance (p 0.063, OR 2.04; 95% CI 0.96–4.33) When stratifying for different cut-offs (< 1 as reference, 1–1.49, ≥ 1.5), a borderline significant increase in the probability of response appeared for GSS ≥ 1.5 (p 0.053, OR 4.00; 95% CI 0.98–16.25). GSS ≥ 1 showed the highest sensitivity, 82.6%. Receiver operating characteristic curves depicted the widest area under the curve (0.663, p 0.054) of GSS ≥ 1. Unresponsiveness to RAL-containing regimens among triple-class-experienced subjects was low. The activity of the background regimen was strongly associated with response. Although few integrase genotypes were available at failure, half of these were without integrase resistance mutations. The substantial rate of RAL failure in the absence of known RAL-resistance mutations may be associated with adherence issues and this issue warrants further analysis in longer observations. 相似文献
997.
Giovanni Camen Christian F. Clarenbach Anne-Christin Stöwhas Valentina A. Rossi Noriane A. Sievi John R. Stradling Malcolm Kohler 《European journal of applied physiology》2013,113(2):489-496
Preliminary evidence supports an association between OSA and cardiac dysrhythmias. Negative intrathoracic pressure, as occurring during OSA, may provoke cardiac dysrhythmias. Thus, we aimed to study the acute effects of simulated apnea and hypopnea on arrhythmic potential and measures of cardiac repolarization [QTC and T peak to T end intervals ( $ T_{\text{p}} T_{{{\text{e}}_{\text{c}} }} $ )] in humans. In 41 healthy volunteers, ECG was continuously recorded prior, during and after simulated obstructive hypopnea (inspiration through a threshold load), simulated apnea (Mueller maneuver), end-expiratory central apnea and normal breathing in randomized order. The number of subjects with premature beats was significantly higher during inspiration through a threshold load (n = 7), and the Mueller maneuver (n = 7) compared to normal breathing (n = 0) (p = 0.008 for all comparisons), but not during end-expiratory central apnea (n = 3, p = 0.125). Inspiration through a threshold load was associated with a non-significant mean (SD) increase of the QTC interval [+5.4 (22.4) ms, 95 %CI ?1.7 to +12.4 ms, p = 0.168] and a significant increase of the $ T_{\text{p}} T_{{{\text{e}}_{\text{c}} }} $ interval [+3.7 (8.9) ms, 95 %CI +0.9 to +6.6 ms, p = 0.010]. The Mueller maneuver induced a significant increase of the QTC interval [+8.3 (23.4) ms, 95 %CI 0.9 to +15.6 ms, p = 0.035] and the $ T_{\text{p}} T_{{{\text{e}}_{\text{c}} }} $ interval (+4.2 (8.2) ms, 95 %CI +1.6 to +6.8 ms, p = 0.002). There were no significant changes of the QTC and $ T_{\text{p}} T_{{{\text{e}}_{\text{c}} }} $ intervals during central end-expiratory apnea. These data indicate that simulated obstructive apnea and hypopnea are associated with an increase of premature beats and prolongation of QTC and $ T_{\text{p}} T_{{{\text{e}}_{\text{c}} }} $ intervals. Therefore, negative intrathoracic pressure changes may be a contributory mechanism for the association between OSA and cardiac dysrhythmias. 相似文献
998.
Massimo Corsalini Daniela Di Venere Francesco Pettini Dorina Lauritano Massimo Petruzzi 《International journal of medical sciences》2013,10(12):1784-1789
BACKGROUND: Burning Mouth Syndrome (BMS) is a chronic disease characterized by absence of any lesions and burning of the oral mucosa associated to a sensation of dry mouth and/or taste alterations. The purpose of our study is to estimate signs and symptoms of Temporomandibular Disorders (TMD) in patients with BMS and to investigate for the existence of an association between BMS and TMD.MATERIALS AND METHODS: Forty-four BMS patients were enrolled; BMS subtype was established according to the classification of Lamey. After a gnathological evaluation, according to the protocol of the European Academy of Craniomandibular Disorders, patients were classified by RDC/TMD criteria. The data were compared and analyzed using a chi-square test to describe the existence of an association between BMS and TMD.RESULTS: 65.9% the BMS patients showed disorders classified as primary signs and symptoms of TMD according to RDC / TMD criteria, and 72.7% showed parafunctional habits. The chi-square test revealed a statistically significant association (p = 0.035) between BMS and TMD.CONCLUSION: The data suggest that there is a possible relationship not yet well understood between BMS and TMD, may be for neurophatic alterations assumed for BMS that could be also engaged in TMD pathogenesis. 相似文献
999.
Sara D'Angelo Flavio Mignone Cecilia Deantonio Roberto Di Niro Roberta Bordoni Roberto Marzari Gianluca De Bellis Tarcisio Not Fortunato Ferrara Andrew Bradbury Claudio Santoro Daniele Sblattero 《Clinical immunology (Orlando, Fla.)》2013,148(1):99-109
The aim of this study was to dissect the autoantibody response in celiac disease (CD) that remains largely unknown, with the goal of identifying the disease-specific autoantigenic protein pattern or the so called epitome. Sera from CD patients were used to select immunoreactive antigens from a cDNA phage-display library. Candidate genes were identified, the corresponding proteins produced and their immunoreactivity validated with sera from CD patients and controls. Thirteen CD-specific antigens were identified and further validated by protein microarray. The specificity for 6 of these antigens was confirmed by ELISA. Furthermore we showed that this antibody response was not abolished on a gluten free diet and was not shared with other autoimmune diseases. These antigens appear to be CD specific and independent of gluten induction. The utility of this panel extends beyond its diagnostic value and it may drive the attention to new targets for unbiased screens in autoimmunity research. 相似文献
1000.
Carla Sappino Ludovica Primitivo Martina De Angelis Francesco Righi Federica Di Pietro Marika Iannoni Luciano Pilloni Stefano Vecchio Ciprioti Lorenza Suber Alessandra Ricelli Giuliana Righi 《RSC advances》2020,10(50):29688
A linear β-amino alcohol ligand, previously found to be a very efficient catalyst for enantioselective addition of dialkylzinc to aromatic aldehydes, has been anchored on differently functionalized superparamagnetic core–shell magnetite–silica nanoparticles (1a and 1b). Its catalytic activity in the addition of dialkylzinc to aldehydes has been evaluated, leading to promising results, especially in the case of 1b for which the recovery by simple magnetic decantation and reuse was successfully verified.The catalytic activity of a linear β-amino alcohol ligand anchored on functionalized magnetite/silica core–shell nanoparticles has been evaluated in the addition of dialkylzinc to aldehydes leading to promising results. 相似文献