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https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#1
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, that revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish (AJ) mutation (in relevant patients) was followed by next generation sequencing and Multiplex Ligation-dependent Probe Amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27909354/the-comprehension-of-sentences-with-unaccusative-verbs-in-aphasia-a-test-of-the-intervener-hypothesis
#2
Natalie Sullivan, Matthew Walenski, Tracy Love, Lewis P Shapiro
BACKGROUND: It is well accepted that individuals with agrammatic Broca's aphasia have difficulty comprehending some sentences with filler-gap dependencies. While investigations of these difficulties have been conducted with several different sentence types (e.g., object relatives, Wh-questions), we explore sentences containing unaccusative verbs, which arguably have a single noun phrase (NP) that is base-generated in object position but then is displaced to surface subject position. Unaccusative verbs provide an ideal test case for a particular hypothesis about the comprehension disorder-the Intervener Hypothesis-that posits that the difficulty individuals with agrammatic Broca's aphasia have comprehending sentences containing filler-gap dependencies results from similarity-based interference caused by the presence of an intervening NP between the two elements of a syntactic chain...
2017: Aphasiology
https://www.readbyqxmd.com/read/27895000/severe-acute-otitis-media-and-acute-mastoiditis-in-adults
#3
Anu Laulajainen Hongisto, Jussi Jero, Antti Markkola, Riste Saat, Antti A Aarnisalo
OBJECTIVE: To evaluate and compare clinical and microbiological findings in adults hospitalized for acute otitis media (AOM) or mastoid infections (acute or latent). MATERIALS AND METHODS: We retrospectively reviewed the medical records of all adults (≥17 years old) hospitalized (between 2003 and 2012) at a tertiary referral center for acute mastoid infections or AOM not responding to outpatient medical treatment. RESULTS: Of the 160 patients in the study sample, 19% had an infection caused by S...
November 28, 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27893295/medical-directors-of-breastfeeding-programs-at-academic-medical-centers-duties-and-challenges
#4
Casey B Rosen-Carole
INTRODUCTION: An emerging trend in Academic Medical Centers (AMCs) is to coordinate breastfeeding care, research, and trainee education through "medical director" positions. Little is known about their duties, supports, and challenges. OBJECTIVE: To determine the duties and challenges of directors of breastfeeding medicine in AMCs. METHODS: A survey was distributed four times over a 3-month period to three listservs with a total of 860 members...
November 28, 2016: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/27867055/heterologous-expression-and-functional-characterization-of-phytaspase-a-caspase-like-plant-protease
#5
Sharmila Narayanan, Pallab Sanpui, Lingaraj Sahoo, Siddhartha Sankar Ghosh
Following the cloning and expression of tobacco (Nicotiana tabacum) phytaspase gene in Escherichia coli BL21, the recombinant protease was purified by affinity chromatography for further characterization. Circular dichroism (CD) spectroscopy and in silico analysis revealed structural similarities of recombinant phytaspase with other plant serine-proteases. Molecular docking studies showed favourable binding of synthetic peptide substrate for caspase 8 (Ac-VETD-AMC) to the reactive pocket of recombinant phytaspase indicating its potential in assessing functional activity of recombinant phytaspase...
November 17, 2016: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/27863532/microvesicles-secreted-from-equine-amniotic-derived-cells-and-their-potential-role-in-reducing-inflammation-in-endometrial-cells-in-an-in-vitro-model
#6
Claudia Perrini, Maria Giuseppina Strillacci, Alessandro Bagnato, Paola Esposti, Maria Giovanna Marini, Bruna Corradetti, Davide Bizzaro, Antonella Idda, Sergio Ledda, Emanuele Capra, Flavia Pizzi, Anna Lange-Consiglio, Fausto Cremonesi
BACKGROUND: It is known that a paracrine mechanism exists between mesenchymal stem cells and target cells. This process may involve microvesicles (MVs) as an integral component of cell-to-cell communication. METHODS: In this context, this study aims to understand the efficacy of MVs in in-vitro endometrial stressed cells in view of potential healing in in-vivo studies. For this purpose, the presence and type of MVs secreted by amniotic mesenchymal stem cells (AMCs) were investigated and the response of endometrial cells to MVs was studied using a dose-response curve at different concentrations and times...
November 18, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27855440/loss-of-kcnq1-expression-in-stage-ii-and-stage-iii-colon-cancer-is-a-strong-prognostic-factor-for-disease-recurrence
#7
Sjoerd H den Uil, Veerle M H Coupé, Janneke F Linnekamp, Evert van den Broek, Jeroen A C M Goos, Pien M Delis-van Diemen, Eric J Th Belt, Nicole C T van Grieken, Patricia M Scott, Louis Vermeulen, Jan Paul Medema, Herman Bril, Hein B A C Stockmann, Robert T Cormier, Gerrit A Meijer, Remond J A Fijneman
BACKGROUND: Colorectal cancer (CRC) is the third most common cancer worldwide. Accurately identifying stage II CRC patients at risk for recurrence is an unmet clinical need. KCNQ1 was previously identified as a tumour suppressor gene and loss of expression was associated with poor survival in patients with CRC liver metastases. In this study the prognostic value of KCNQ1 in stage II and stage III colon cancer patients was examined. METHODS: KCNQ1 mRNA expression was assessed in 90 stage II colon cancer patients (AMC-AJCCII-90) using microarray gene expression data...
December 6, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27842868/epidemiology-of-staphylococcus-aureus-in-italy-first-nationwide-survey-2012
#8
Floriana Campanile, Dafne Bongiorno, Marianna Perez, Gino Mongelli, Laura Sessa, Sabrina Benvenuto, Floriana Gona, Pietro E Varaldo, Stefania Stefani
A 3-month epidemiological study to determine the prevalence and antibiotic resistance of Staphylococcus aureus nosocomial infections was performed in 52 centres throughout Italy in 2012. A total of 21,873 pathogens were analysed. The prevalence of S. aureus among all nosocomial pathogens isolated in that period was 11.6% (n=2541), whilst the prevalence of methicillin-resistant S. aureus (MRSA) among the S. aureus was 35.8% (n=910). All tested antimicrobials demonstrated ≥92.2% susceptibility against methicillin-susceptible S...
December 2015: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27829219/altered-expression-of-mirnas-and-methylation-of-their-promoters-are-correlated-in-neuroblastoma
#9
Marco Maugeri, Davide Barbagallo, Cristina Barbagallo, Barbara Banelli, Stefania Di Mauro, Francesco Purrello, Gaetano Magro, Marco Ragusa, Cinzia Di Pietro, Massimo Romani, Michele Purrello
Neuroblastoma is the most common human extracranial solid tumor during infancy. Involvement of several miRNAs in its pathogenesis has been ascertained. Interestingly, most of their encoding genes reside in hypermethylated genomic regions: thus, their tumor suppressor function is normally disallowed in these tumors. To date, the therapeutic role of the demethylating agent 5'-Aza-2 deoxycytidine (5'-AZA) and its effects on miRNAome modulation in neuroblastoma have not been satisfactorily explored. Starting from a high-throughput expression profiling of 754 miRNAs and based on a proper selection, we focused on miR-29a-3p, miR-34b-3p, miR-181c-5p and miR-517a-3p as candidate miRNAs for our analysis...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27825834/toxicological-assessment-of-anionic-methacrylate-copolymer-i-characterization-bioavailability-and-genotoxicity
#10
Johanna Eisele, Geoff Haynes, Knut Kreuzer, Caroline Hall
Anionic Methacrylate Copolymer (AMC) is a fully polymerized copolymer used in the pharmaceutical industry as an enteric/delayed-release coating to permit the pH-dependent release of active ingredients in the gastrointestinal tract from oral dosage forms. This function is of potential use for food supplements. Oral administration of radiolabeled copolymer to rats resulted in the detection of chemically unchanged copolymer in the feces, with negligible absorption (<0.1%). AMC is therefore determined not to be bioavailable...
December 2016: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/27821152/a-20-year-multicentre-outcome-analysis-of-salvage-mechanical-circulatory-support-for-refractory-cardiogenic-shock-after-cardiac-surgery
#11
Maziar Khorsandi, Scott Dougherty, Andrew Sinclair, Keith Buchan, Fiona MacLennan, Omar Bouamra, Philip Curry, Vipin Zamvar, Geoffrey Berg, Nawwar Al-Attar
BACKGROUND: Refractory post-cardiotomy cardiogenic shock (PCCS) is a relatively rare phenomenon that can lead to rapid multi-organ dysfunction syndrome and is almost invariably fatal without advanced mechanical circulatory support (AMCS), namely extra-corporeal membrane oxygenation (ECMO) or ventricular assist devices (VAD). In this multicentre observational study we retrospectively analyzed the outcomes of salvage venoarterial ECMO (VA ECMO) and VAD for refractory PCCS in the 3 adult cardiothoracic surgery centres in Scotland over a 20-year period...
November 8, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27807649/peripheral-blood-lymphocyte-monocyte-ratio-following-completion-of-first-line-therapy-predicts-early-relapse-in-patients-with-diffuse-large-b-cell-lymphoma
#12
Shu-Juan Zhou, Yong-Yong Ma, Yu Zhang, Sheng Luo, Li-Yuan Tang, Yi Chen, Lan Sun, Kang Yu
To investigate whether the post-therapy lymphocyte/monocyte ratio (ALC/AMC ratio or LMR) predicts early relapse in patients with diffuse large B cell lymphoma (DLBCL), we enrolled 125 consecutive patients with DLBCL and followed up from 2005 to 2015 in our hospital. The LMR was measured following completion of first-line therapy. We found that the LMR following completion therapy was a strong predictor of early relapse, which is less than 12 months after diagnosis. A low LMR was significantly associated with early relapse in both univariate [odds ratio (OR) = 8...
November 2, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27806936/antibiotic-and-disinfectant-resistance-of-salmonella-isolated-from-egg-production-chains
#13
Yang Shengzhi, Wu Guoyan, Long Mei, Deng Wenwen, Wang Hongning, Zou Likou
To investigate the contamination of Salmonella and its drug resistance in egg production chains, 111 Salmonella strains of different serotypes isolated from egg production chains were used in the study. The minimum inhibitory concentrations (MICs) of antibiotics and disinfectants against Salmonella isolates were determined, meanwhile, antibiotic and disinfectant resistance genes were amplified. The results showed that the resistance frequency of trimethoprim (TMP, N=100, P=90.09%) was highest among Salmonella isolates and all isolates were sensitive to amoxicillin and clavulanate (AMC), ceftiofur sodium (CFS) and gentamicin (CN), respectively...
October 20, 2016: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/27798871/radiotherapy-associated-furin-expression-and-tumor-invasiveness-in-recurrent-laryngeal-cancer
#14
Myungjin Lee, Chang Hwan Ryu, Hyo Won Chang, Gui Chul Kim, Seong Who Kim, Sang Yoon Kim
BACKGROUND/AIM: Recurrent laryngeal cancer often shows an aggressive phenotype after radiotherapy and does not respond to conventional therapeutic strategies. In this study, we investigated the contribution of furin to cellular invasiveness in radio-resistant laryngeal cancer. MATERIALS AND METHODS: Using previously established AMC-HN-3 and AMC-HN-8 cell lines from laryngeal carcinoma patients, recurrent laryngeal cancer models were generated by cumulative irradiation (AMC-HN-3-70Gy and AMC-HN-8-70Gy)...
October 2016: Anticancer Research
https://www.readbyqxmd.com/read/27795373/population-pharmacokinetics-and-dosing-considerations-for-gentamicin-in-newborns-with-suspected-or-proven-gram-negative-sepsis
#15
Yuma A Bijleveld, Maria E van den Heuvel, Caspar J Hodiamont, Ron A A Mathot, Timo R de Haan
AIM: To describe the population pharmacokinetics (PK) of gentamicin in neonates with suspected or proven gram-negative sepsis and determine the optimal dosage regimen in relation to the bacterial minimum inhibitory concentrations (MIC) found in this population. METHODS: Data were prospectively collected between October 2012 and January 2013 in the Neonatal Intensive Care unit (NICU) at the Academic Medical Centre (AMC), Amsterdam, The Netherlands. A single non-linear mixed-effects regression analysis (NONMEM®) was performed to describe the population PK of gentamicin...
October 24, 2016: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/27784365/-effect-of-lymphocyte-monocyte-ratio-on-clinical-features-and-prognosis-of-patients-with-primary-gastrointestinal-diffuse-large-b-cell-lymphoma
#16
Yu-Xiu Xu, Yong-Gang Zhang, Chun-Ling Xu, Nong-Jun Liu
OBJECTIVE: To analyze the effect of lymphocyte/monocyte ratio(LMR) on clinical features and prognosis of patients with primary gastrointestinal diffuse large B cell lymphoma(PGI-DLBCL). METHODS: The clinical data of 38 PGI-DLBCL patients with complete follow-up data in our hospital were analyzed retrospectively. The absolute lymphocyte count(ALC), absolute monocyte count(AMC) and LMR were counted by automating complete blood cell count statistics in newly diagnosed patients, and then the LMR cut off value was obtained by ROC curve...
October 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27766146/review-on-colonization-of-residents-and-staff-in-italian-long-term-care-facilities-by-multidrug-resistant-bacteria-compared-with-other-european-countries
#17
Richard Aschbacher, Elisabetta Pagani, Massimo Confalonieri, Claudio Farina, Paolo Fazii, Francesco Luzzaro, Pier Giorgio Montanera, Aurora Piazza, Laura Pagani
BACKGROUND: Rates of colonization and infection with multidrug-resistant (MDR) bacteria are increasing worldwide, in both acute care hospitals and long-term care facilities (LTCFs). Italy has one of the highest prevalence of MDR bacteria in European countries, especially with regard to methicillin-resistant Staphylococcus aureus (MRSA) and extended-spectrum β-lactamase (ESBL) or carbapenemase producing Enterobacteriaceae (CPE). METHOD: Review of studies on colonization by MDR bacteria from Italian LTCFs, risk factors for colonization and molecular characteristics of surveillance and clinical isolates, compared with other European countries...
2016: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/27761079/elucidation-of-molecular-mechanism-s-of-cognition-enhancing-activity-of-bacomind-%C3%A2-a-standardized-extract-of-bacopa-monnieri
#18
Shekhar Dethe, M Deepak, Amit Agarwal
BACKGROUND: Bacopa monnieri (L.) Wettst., commonly known as Brahmi, is renowned in Indian traditional system for its potent memory enhancing activity, which has been validated by various scientific studies. OBJECTIVE: The objective of this study was to understand the molecular mechanism of memory enhancing activity of BacoMind(®) (BM), a standardized extract of B. monnieri. MATERIALS AND METHODS: BM was screened in vitro in a panel of cell-free and receptor-transfected cell assays...
July 2016: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/27756680/steady-state-kinetic-studies-reveal-that-the-anti-cancer-target-ubiquitin-specific-protease-17-usp17-is-a-highly-efficient-deubiquitinating-enzyme
#19
Nicole M Hjortland, Andrew D Mesecar
USP17 is a deubiquitinating enzyme that is upregulated in numerous cancers and therefore a drug target. We developed a robust expression, purification, and assay system for USP17 enabling its enzymatic and structural characterization. USP17 was expressed in E. coli as inclusion bodies and then solubilized, refolded, and purified using affinity and size-exclusion chromatography. Milligram quantities of pure USP17 can be produced that is catalytically more efficient (kcat/Km = 1500 (x10(3)) M(-1)sec(-1)) than other human USPs studied to date...
October 15, 2016: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#20
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
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