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Roberta Battini, M Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms...
February 2, 2017: Orphanet Journal of Rare Diseases
Joseph L Brooks, Alexia Zoumpoulaki, Howard Bowman
In ERP and other large multidimensional neuroscience data sets, researchers often select regions of interest (ROIs) for analysis. The method of ROI selection can critically affect the conclusions of a study by causing the researcher to miss effects in the data or to detect spurious effects. In practice, to avoid inflating Type I error rate (i.e., false positives), ROIs are often based on a priori hypotheses or independent information. However, this can be insensitive to experiment-specific variations in effect location (e...
January 2017: Psychophysiology
Antonio Matrone, Carla Gambale, Paolo Piaggi, David Viola, Carlotta Giani, Laura Agate, Valeria Bottici, Francesca Bianchi, Gabriele Materazzi, Paolo Vitti, Eleonora Molinaro, Rossella Elisei
CONTEXT: For many years, total thyroidectomy (TTx) and radioiodine remnant ablation (RRA) represented the initial treatment of differentiated thyroid cancer (DTC). There is currently much debate surrounding the clinical impact of RRA, particularly in low (LR) and intermediate (IR) risk DTC. OBJECTIVE: To evaluate the role of postoperative High-Sensitive Thyroglobulin on L-thyroxine (LT4-HSTg) and postoperative neck ultrasound (nUS) in risk re-stratification and decision to perform RRA...
December 8, 2016: Journal of Clinical Endocrinology and Metabolism
V Kh Khavinson, N S Lin'kova, S I Tarnovskaya
Short peptides constitute the system of signal molecules regulating the functions of the organism at the molecular, genetic, subcellular, cellular, and tissue levels. One short peptide can regulate dozens of genes, but the molecular mechanism of this process remains unclear. We suppose that short peptides penetrate through the cytoplasmic and nuclear membrane and bind to DNA. Spatial models of DNA-peptide complexes are constructed for 19 short peptides by the docking method. Some peptides have the same binding sites...
December 2016: Bulletin of Experimental Biology and Medicine
Fatemeh Tamaddon, MohammadTaghi KazemiVarnamkhasti
Preparation, characterization, and application of alkali starch (AS) given by dry co-grinding of starch and alkali is described in this work. Grinding using a mortar (agate) and pestle or, more conveniently, a ball mill has been found to be satisfactory for the preparation of the AS. The AS products were characterized by scanning electron microscopy (SEM) and Fourier transform infrared spectroscopy (FTIR) and x-ray fluorescence (XRF) analyses. The base capacities of ASs were 4.25-4.45 mmol/g, respectively...
January 2, 2017: Carbohydrate Research
Tanguy Blaire, Alban Bailliez, Fayçal Ben Bouallegue, Dimitri Bellevre, Denis Agostini, Alain Manrique
BACKGROUND: The impact of increased energy resolution of cadmium-zinc-telluride (CZT) cameras on the assessment of left ventricular function under dual-isotope conditions ((99m)Tc and (123)I) remains unknown. The Amsterdam-gated dynamic cardiac phantom (AGATE, Vanderwilt techniques, Boxtel, The Netherlands) was successively filled with a solution of (123)I alone, (99m)Tc alone, and a mixture of (123)I and (99m)Tc. A total of 12 datasets was acquired with each commercially available CZT camera (DNM 530c, GE Healthcare and DSPECT, Biosensors International) using both energy windows ((99m)Tc or (123)I) with ejection fraction set to 33, 45, and 60 %...
December 2016: EJNMMI Physics
Meeta Pathak, O K Olstad, Liv Drolsum, Morten C Moe, Natalia Smorodinova, Sarka Kalasova, Katerina Jirsova, Bjørn Nicolaissen, Agate Noer
Patients with limbal stem cell deficiency (LSCD) often experience pain and photophobia due to recurrent epithelial defects and chronic inflammation of the cornea. Successfully restoring a healthy corneal surface in these patients by transplantation of ex vivo expanded human limbal epithelial cells (LECs) may alleviate these symptoms and significantly improve their quality of life. The clinical outcome of transplantation is known to be influenced by the quality of transplanted cells. Presently, several different protocols for cultivation and transplantation of LECs are in use...
October 1, 2016: Experimental Eye Research
Pravina Jeevanaraj, Zailina Hashim, Saliza Mohd Elias, Ahmad Zaharin Aris
We identified marine fish species most preferred by women at reproductive age in Selangor, Malaysia, mercury concentrations in the fish muscles, factors predicting mercury accumulation and the potential health risk. Nineteen most preferred marine fish species were purchased (n = 175) from selected fisherman's and wholesale market. Length, weight, habitat, feeding habit and trophic level were recognised. Edible muscles were filleted, dried at 80 °C, ground on an agate mortar and digested in Multiwave 3000 using HNO3 and H2O2...
December 2016: Environmental Science and Pollution Research International
Koji Fujii, Haruhiko Watahiki, Yusuke Mita, Yasuki Iwashima, Hajime Miyaguchi, Tetsushi Kitayama, Hiroaki Nakahara, Natsuko Mizuno, Kazumasa Sekiguchi
In short tandem repeat (STR) analysis, length polymorphisms are detected by capillary electrophoresis (CE). At most STR loci, mobility shift due to sequence variation in the repeat region was thought not to affect the typing results. In our recent population studies of 1501 Japanese individuals, off-ladder calls were observed at the D12S391 locus using PowerPlex Fusion in nine samples for allele 22, one sample for allele 25, and one sample for allele 26. However, these samples were typed as ordinary alleles within the bins using GlobalFiler...
September 2016: Legal Medicine
Kazumi Matsubara, Chizuko Nishida, Yoichi Matsuda, Yoshinori Kumazawa
BACKGROUND: The discovery of differentially organized sex chromosome systems suggests that heteromorphic sex chromosomes evolved from a pair of homologous chromosomes. Whereas karyotypes are highly conserved in alethinophidian snakes, the degeneration status of the W chromosomes varies among species. The Z and W chromosomes are morphologically homomorphic in henophidian species, whereas in snakes belonging to caenophidian families the W chromosomes are highly degenerated. Snakes therefore are excellent animal models in which to study sex chromosome evolution...
2016: Zoological Letters
R Ciampi, C Romei, L Pieruzzi, A Tacito, E Molinaro, L Agate, V Bottici, F Casella, C Ugolini, G Materazzi, F Basolo, R Elisei
BACKGROUND: Papillary (PTC) and medullary (MTC) thyroid carcinomas represent two distinct entities, but quite frequently, they may occur simultaneously. AIM: To provide genetic analysis of PTC and MTC occurring in the same patient (PTC/MTC) to elucidate their origin. METHODS: Sequencing analysis of RAS, BRAF and RET oncogenes hot spots mutations in tumoral and normal tissues of 24 PTC/MTC patients. RESULTS: Two of 24 patients (8...
January 2017: Journal of Endocrinological Investigation
Nicole L Kallewaard, Davide Corti, Patrick J Collins, Ursula Neu, Josephine M McAuliffe, Ebony Benjamin, Leslie Wachter-Rosati, Frances J Palmer-Hill, Andy Q Yuan, Philip A Walker, Matthias K Vorlaender, Siro Bianchi, Barbara Guarino, Anna De Marco, Fabrizia Vanzetta, Gloria Agatic, Mathilde Foglierini, Debora Pinna, Blanca Fernandez-Rodriguez, Alexander Fruehwirth, Chiara Silacci, Roksana W Ogrodowicz, Stephen R Martin, Federica Sallusto, JoAnn A Suzich, Antonio Lanzavecchia, Qing Zhu, Steven J Gamblin, John J Skehel
Influenza virus remains a threat because of its ability to evade vaccine-induced immune responses due to antigenic drift. Here, we describe the isolation, evolution, and structure of a broad-spectrum human monoclonal antibody (mAb), MEDI8852, effectively reacting with all influenza A hemagglutinin (HA) subtypes. MEDI8852 uses the heavy-chain VH6-1 gene and has higher potency and breadth when compared to other anti-stem antibodies. MEDI8852 is effective in mice and ferrets with a therapeutic window superior to that of oseltamivir...
July 28, 2016: Cell
Gillian M Keating
A fixed-dose tablet comprising the NS5A inhibitor ombitasvir, the NS3/4A inhibitor paritaprevir and ritonavir (ombitasvir/paritaprevir/ritonavir) (Technivie(®), Viekirax(®)) is available for use, in combination with ribavirin, for the treatment of chronic hepatitis C virus (HCV) genotype 4 infection. High sustained virological response rates at 12 weeks post-treatment (SVR12) were achieved in treatment-naive or -experienced patients with chronic HCV genotype 4 infection, including patients without cirrhosis who received ombitasvir plus paritaprevir and ritonavir in combination with ribavirin for 12 weeks (SVR12 100 %) (PEARL-I trial), patients with compensated cirrhosis who received ombitasvir/paritaprevir/ritonavir plus ribavirin for 12 or 16 weeks (SVR12 97 and 98 %) (AGATE-I trial), or Egyptian patients without cirrhosis who received ombitasvir/paritaprevir/ritonavir plus ribavirin for 12 weeks (SVR12 94 %) or with compensated cirrhosis who received ombitasvir/paritaprevir/ritonavir plus ribavirin for 12 or 24 weeks (SVR12 97 and 93 %) (AGATE-II trial)...
August 2016: Drugs
David Viola, Laura Valerio, Eleonora Molinaro, Laura Agate, Valeria Bottici, Agnese Biagini, Loredana Lorusso, Virginia Cappagli, Letizia Pieruzzi, Carlotta Giani, Elena Sabini, Paolo Passannati, Luciana Puleo, Antonio Matrone, Benedetta Pontillo-Contillo, Valentina Battaglia, Salvatore Mazzeo, Paolo Vitti, Rossella Elisei
Thyroid cancer is rare, but it is the most frequent endocrine malignancy. Its prognosis is generally favorable, especially in cases of well-differentiated thyroid cancers (DTCs), such as papillary and follicular cancers, which have survival rates of approximately 95% at 40 years. However, 15-20% of cases became radioiodine refractory (RAI-R), and until now, no other treatments have been effective. The same problems are found in cases of poorly differentiated (PDTC) and anaplastic (ATC) thyroid cancers and in at least 30% of medullary thyroid cancer (MTC) cases, which are very aggressive and not sensitive to radioiodine...
April 2016: Endocrine-related Cancer
Alban Bailliez, Olivier Lairez, Charles Merlin, Nicolas Piriou, Damien Legallois, Tanguy Blaire, Denis Agostini, Frederic Valette, Alain Manrique
UNLABELLED: This study compared two SPECT cameras with cadmium-zinc-telluride (CZT) detectors to a conventional Anger camera with cardiofocal collimators for the assessment of left ventricular (LV) function in a phantom and patients. METHODS: A gated dynamic cardiac phantom was used. Eighteen acquisitions were processed on each CZT camera and the conventional camera. The total number of counts within a myocardial volume of interest varied from 0.25 kcts to 1.5 Mcts...
September 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Koji Fujii, Yasuki Iwashima, Haruhiko Watahiki, Yusuke Mita, Tetsushi Kitayama, Hiroaki Nakahara, Natsuko Mizuno, Kazumasa Sekiguchi
Short tandem repeat (STR) typing is widely used in forensic investigation. When the same DNA sample is analyzed with different STR typing kits, a typing discrepancy is occasionally observed. In this study, we examined the cause of a typing discrepancy in a sample at D5S818 locus. This sample was designated as 10, 12 using Identifiler(®) , Identifiler(®) Plus, GlobalFiler(®) , PowerPlex(®) 16HS, and PowerPlex(®) 18D, but as 9.3, 12 using PowerPlex(®) Fusion. Sequencing results indicated that the shorter allele in the sample had a deletion (U31Tdel) at 31 nucleotides upstream of the repeat region (AGAT)10 ...
May 2016: Journal of Forensic Sciences
Monica Cipollini, Gisella Figlioli, Giuseppe Maccari, Sonia Garritano, Chiara De Santi, Ombretta Melaiu, Elisa Barone, Franco Bambi, Stefano Ermini, Giovanni Pellegrini, Alfonso Cristaudo, Rudy Foddis, Alessandra Bonotti, Cristina Romei, Agnese Vivaldi, Laura Agate, Eleonora Molinari, Roberto Barale, Asta Forsti, Kari Hemminki, Rossella Elisei, Federica Gemignani, Stefano Landi
The thyrocytes are exposed to high levels of oxidative stress which could induce DNA damages. Base excision repair (BER) is one of the principal mechanisms of defense against oxidative DNA damage, however recent evidences suggest that also nucleotide excision repair (NER) could be involved. The aim of present work was to identify novel differentiated thyroid cancer (DTC) risk variants in BER and NER genes. For this purpose, the most strongly associated SNPs within NER and BER genes found in our previous GWAS on DTC were selected and replicated in an independent series of samples for a new case-control study...
May 2016: DNA Repair
Larra Agate, Deborah Beam, Collen Bucci, Yegor Dukashin, Raneem Jo'Beh, Kelsey O'Brien, Brooke A Jude
In this citizen science-aided, college laboratory-based microbiology research project, secondary school students collaborate with college research students on an investigation centered around bacterial species in the local watershed. This study specifically investigated the prevalence of violacein-producing bacterial isolates, as violacein has been demonstrated as a potential bioremediation treatment for outbreaks of the worldwide invasive chytrid, Batrachochytrium dendrobatidis (Bd). The impact of this invasion has been linked to widespread amphibian decline, and tracking of the spread of Bd is currently ongoing...
March 2016: Journal of Microbiology & Biology Education: JMBE
N Koshoridze, Z Kuchukashvili, K Menabde, Sh Lekiashvili, M Koshoridze
Stress represents one of the main problems of modern humanity. This study was done for understanding more clearly alterations in creatine content of the brain under psycho-emotional stress induced by long-term social isolation. It was shown that under 30 days social isolation creatine amount in the brain was arisen, while decreasing concentrations of synthesizing enzymes (AGAT, GAMT) and creatine transporter protein (CrT). Another important point was that such changes were accompanied by down-regulation of creatine kinase (CK), therefore the enzyme's concentration was lowered...
February 2016: Georgian Medical News
Paola De Benedictis, Andrea Minola, Elena Rota Nodari, Roberta Aiello, Barbara Zecchin, Angela Salomoni, Mathilde Foglierini, Gloria Agatic, Fabrizia Vanzetta, Rachel Lavenir, Anthony Lepelletier, Emma Bentley, Robin Weiss, Giovanni Cattoli, Ilaria Capua, Federica Sallusto, Edward Wright, Antonio Lanzavecchia, Hervé Bourhy, Davide Corti
Currently available rabies post-exposure prophylaxis (PEP) for use in humans includes equine or human rabies immunoglobulins (RIG). The replacement of RIG with an equally or more potent and safer product is strongly encouraged due to the high costs and limited availability of existing RIG. In this study, we identified two broadly neutralizing human monoclonal antibodies that represent a valid and affordable alternative to RIG in rabies PEP. Memory B cells from four selected vaccinated donors were immortalized and monoclonal antibodies were tested for neutralizing activity and epitope specificity...
1, 2016: EMBO Molecular Medicine
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