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https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#1
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319711/why-coastal-upwelling-is-expected-to-increase-along-the-western-iberian-peninsula-over-the-next-century
#2
Magda Catarina Sousa, Maite deCastro, Ines Alvarez, Moncho Gomez-Gesteira, João Miguel Dias
Former studies about coastal upwelling along the Western Iberian Peninsula (WIP) using historical data indicated contradictory results, showing either its strengthening or reduction, while previous studies using Global Climate Models (GCMs) indicated that global warming is likely to intensify this phenomenon although predicting different rates and not justifying the patterns found. Taking advantage of the recent high spatial resolution Regional Climate Models (RCMs) projections from EURO-CORDEX project (Representative Concentration Pathway, RCP 8...
March 16, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28314850/temporal-trends-and-temperature-related-incidence-of-electrical-storm-the-tempest-study-temperature-related-incidence-of-electrical-storm
#3
Federico Guerra, Paolo Bonelli, Marco Flori, Laura Cipolletta, Corrado Carbucicchio, Maite Izquierdo, Edward Kozluk, Kalyanam Shivkumar, Marmar Vaseghi, Francesca Patani, Claudio Cupido, Salvatore Pala, Ricardo Ruiz-Granell, Angel Ferrero, Claudio Tondo, Alessandro Capucci
BACKGROUND: The occurrence of ventricular tachyarrhythmias seems to follow circadian, daily, and seasonal distributions. Our aim is to identify potential temporal patterns of electrical storm (ES), in which a cluster of ventricular tachycardias or ventricular fibrillation, negatively affects short- and long-term survival. METHODS AND RESULTS: The TEMPEST study (Circannual Pattern and Temperature-Related Incidence of Electrical Storm) is a patient-level, pooled analysis of previously published data sets...
March 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28303547/persistent-lymphopenia-is-a-risk-factor-for-icu-acquired-infections-and-for-death-in-icu-patients-with-sustained-hypotension-at-admission
#4
Christophe Adrie, Maxime Lugosi, Romain Sonneville, Bertrand Souweine, Stéphane Ruckly, Jean-Charles Cartier, Maité Garrouste-Orgeas, Carole Schwebel, Jean-François Timsit
BACKGROUND: Severely ill patients might develop an alteration of their immune system called post-aggressive immunosuppression. We sought to assess the risk of ICU-acquired infection and of mortality according to the absolute lymphocyte count at ICU admission and its changes over 3 days. METHODS: Adults in ICU for at least 3 days with a shock or persistent low blood pressure were extracted from a French ICU database and included. We evaluated the impact of the absolute lymphocyte count at baseline and its change at day 3 on the incidence of ICU-acquired infection and on the 28-day mortality rate...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28301977/cognitive-complaints-in-women-with-fibromyalgia-are-they-due-to-depression-or-to-objective-cognitive-dysfunction
#5
Olga Gelonch, Maite Garolera, Joan Valls, Lluís Rosselló, Josep Pifarré
INTRODUCTION: Cognitive complaints are common in fibromyalgia, but it is unclear whether they represent an objective cognitive dysfunction or whether they could be explained by depressive symptoms. Here, we aim to elucidate the frequency of subjective cognitive complaints in a sample of women with fibromyalgia, in addition to analyzing associations between these subjective complaints and objective measures linked to the attention and executive cognitive domains. Finally, we aim to investigate the ability of demographic, clinical, and psychological variables to explain the subjective complaints observed...
March 17, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28295266/cutaneous-phaeohyphomycosis
#6
Mariana P Caviedes, Ana C Torre, Maite Lisa Eliceche, Denise C Valdivia Monteros, Victoria I Volonteri, Ricardo L Galimberti
BACKGROUND: Phaeohyphomycosis is an infrequent infection in human beings. However, in recent years, its prevalence has augmented in immunosuppressed patients (mostly in solid organ transplanted patients). Infection can be mucocutaneous or disseminated. In the former, the fungus inoculation occurs mainly through traumatism. Lesions may be polymorphic and asymptomatic, isolated or multiple, and are usually localized in exposed areas of the limbs and head. Treatment is not standardized. When possible, surgical resection of the lesion is combined with systemic antifungals...
April 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28291864/sex-specific-cognitive-abnormalities-in-early-onset-psychosis
#7
Miguel Ruiz-Veguilla, Josefa Moreno-Granados, Maria D Salcedo-Marin, Maria L Barrigon, Maria J Blanco-Morales, Evelio Igunza, Anselmo Cañabate, Maria D Garcia, Teresa Guijarro, Francisco Diaz-Atienza, Maite Ferrin
Objectives: Brain maturation differs depending on the area of the brain and sex. Girls show an earlier peak in maturation of the prefrontal cortex. Although differences between adult females and males with schizophrenia have been widely studied, there has been less research in girls and boys with psychosis. The purpose of this study was to examine differences in verbal and visual memory, verbal working memory, auditory attention, processing speed, and cognitive flexibility between boys and girls...
January 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28288675/activation-status-of-mucosal-associated-invariant-t-cells-reflects-disease-activity-and-pathology-of-systemic-lupus-erythematosus
#8
Asako Chiba, Naoto Tamura, Kazunori Yoshikiyo, Goh Murayama, Mie Kitagaichi, Ken Yamaji, Yoshinari Takasaki, Sachiko Miyake
BACKGROUND: Mucosal-associated invariant T (MAIT) cells are innate-like lymphocytes constituting a large proportion of peripheral blood T cells expressing αβ T-cell receptor in humans. In this study, we aimed to investigate their involvement in systemic lupus erythematosus (SLE). METHODS: Peripheral blood MAIT cells from patients with SLE were assessed for their frequency, activation markers, and cell death by flow cytometry. The correlation between plasma cytokine levels and CD69 expression on MAIT cells was analyzed...
March 14, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28284159/portable-raman-spectroscopy-for-an-in-situ-monitoring-the-ripening-of-tomato-solanum-lycopersicum-fruits
#9
Josu Trebolazabala, Maite Maguregui, Héctor Morillas, Alberto de Diego, Juan Manuel Madariaga
Ripening is one of the most important transformations that fruits and vegetables suffer, from an unripe to a ripe stage. In this study, it was followed up and analyzed the variations in the composition of tomato fruits at different ripening stages (green or unripe, orange or middle ripe, red or ripe and brown or overripe). The results obtained from the Raman measurements carried out showed a change in the composition of tomato fruits in the transit from green to brown. The analysis confirmed an increase of carotenoids from an unripe to a ripe stage of these fruits, being lycopene the characteristic carotenoid of the optimum ripe stage...
March 7, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28281350/development-of-x-ray-fluorescence-quantitative-methodologies-to-analyze-aqueous-and-acid-extracts-from-building-materials-belonging-to-cultural-heritage
#10
Cristina García-Florentino, Maite Maguregui, Eva Marguí, Ignasi Queralt, Jose Antonio Carrero, Juan Manuel Madariaga
Energy dispersive X-ray fluorescence spectrometry (ED-XRF) is widely used in art and cultural heritage for direct measurements and elemental quantification of solid samples. However, in the literature there are not works dealing with the quantitative application of ED-XRF to liquid extracts coming from samples belonging to cultural heritage. In this work, a novel methodology based on the use of ED-XRF spectrometry after thin film deposition on special sample retainers and a subsequent evaporation was developed to quantify light elements (Z ≤ 20) in aqueous extracts and heavy elements (Z > 20) in acid extracts, coming from materials and degradation products belonging to built heritage (mortars, black crusts, and calcium carbonate formations)...
March 23, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28272391/stabilizing-short-lived-schiff-base-derivatives-of-5-aminouracils-that-activate-mucosal-associated-invariant-t-cells
#11
Jeffrey Y W Mak, Weijun Xu, Robert C Reid, Alexandra J Corbett, Bronwyn S Meehan, Huimeng Wang, Zhenjun Chen, Jamie Rossjohn, James McCluskey, Ligong Liu, David P Fairlie
Mucosal-associated invariant T (MAIT) cells are activated by unstable antigens formed by reactions of 5-amino-6-D-ribitylaminouracil (a vitamin B2 biosynthetic intermediate) with glycolysis metabolites such as methylglyoxal. Here we show superior preparations of antigens in dimethylsulfoxide, avoiding their rapid decomposition in water (t1/2 1.5 h, 37 °C). Antigen solution structures, MAIT cell activation potencies (EC50 3-500 pM), and chemical stabilities are described. Computer analyses of antigen structures reveal stereochemical and energetic influences on MAIT cell activation, enabling design of a water stable synthetic antigen (EC50 2 nM)...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28269381/relationship-between-gait-variables-and-domains-of-neurologic-dysfunction-in-multiple-sclerosis-using-six-minute-walk-test
#12
Asma Qureshi, Maite Brandt-Pearce, Myla D Goldman
Most multiple sclerosis (MS) patients eventually suffer from mobility impairment, and thus it is critical that walking disability in MS be accurately assessed. The six-minute walk test (6MWT), a reliable MS measure, is traditionally used to determine the distance covered in six minutes using a standard protocol. With the availability of body sensor networks (BSNs), researchers are interested in leveraging BSN data for finding new gait assessment anchors for improved separability performance. Further, current methods for gait assessments are insufficient since assessments are absolute, performed by comparing outcomes to the statistical norms established from diverse patient data despite natural inter-patient variability...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28265374/erratum-mait-cells-new-guardians-of-the-liver
#13
Ayako Kurioka, Lucy J Walker, Paul Klenerman, Christian B Willberg
[This corrects the article DOI: 10.1038/cti.2016.51.].
February 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28249705/giant-pulmonary-bulla-superinfection
#14
Ana I Córdoba Alonso, Maite Arlabán Carpintero, José M Olmos Martínez
No abstract text is available yet for this article.
February 26, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28249259/fibroblast-growth-factor-15-19-in-hepatocarcinogenesis
#15
Gloria Alvarez-Sola, Iker Uriarte, M Ujue Latasa, Raquel Urtasun, Marina Bárcena-Varela, Maria Elizalde, Maddalen Jiménez, Carlos M Rodriguez-Ortigosa, Fernando J Corrales, Maite G Fernández-Barrena, Carmen Berasain, Matías A Avila
BACKGROUND: Advanced hepatocellular carcinoma (HCC) is a neoplastic disease with a very bad prognosis and increasing worldwide incidence. HCCs are resistant to conventional chemotherapy and the multikinase inhibitor sorafenib is the only agent that has shown some clinical efficacy. It is therefore important to identify key molecular mechanisms driving hepatocarcinogenesis for the development of more efficacious therapies. However, HCCs are heterogeneous tumors and different molecular subclasses have been characterized...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/28243228/plasmid-replicons-from-pseudomonas-are-natural-chimeras-of-functional-exchangeable-modules
#16
Leire Bardaji, Maite Añorga, José A Ruiz-Masó, Gloria Del Solar, Jesús Murillo
Plasmids are a main factor for the evolution of bacteria through horizontal gene exchange, including the dissemination of pathogenicity genes, resistance to antibiotics and degradation of pollutants. Their capacity to duplicate is dependent on their replication determinants (replicon), which also define their bacterial host range and the inability to coexist with related replicons. We characterize a second replicon from the virulence plasmid pPsv48C, from Pseudomonas syringae pv. savastanoi, which appears to be a natural chimera between the gene encoding a newly described replication protein and a putative replication control region present in the widespread family of PFP virulence plasmids...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28236200/evaluation-of-black-crust-formation-and-soiling-process-on-historical-buildings-from-the-bilbao-metropolitan-area-north-of-spain-using-sem-eds-and-raman-microscopy
#17
Estefanía Calparsoro, Maite Maguregui, Anastasia Giakoumaki, Héctor Morillas, Juan Manuel Madariaga
In the present work, several building materials suffering from black crusts and soiled surfaces were evaluated by scanning electron microscopy energy dispersive X-ray spectrometry (SEM-EDS) and micro-Raman spectroscopy. The goal was to examine the elemental and molecular composition, the distribution on the samples, and the morphology of endogenous and exogenous compounds on those black crusts and soiled surfaces. The black crusts were deposited over different building materials such as limestone, sandstone, and brick that constitute a small construction called "malacate" as well as over a limestone substrate of a cemetery gate...
February 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28231056/temporal-and-regional-variability-in-the-request-of-vitamin-d-from-general-practitioners-in-spain
#18
Maria Salinas, Maite López-Garrigós, Emilio Flores, Carlos Leiva-Salinas
BACKGROUND: Our main goal is to study the inter-practice regional variability and the temporal evolution in the request of 25-hydroxyvitamin D (25[OH]D) by general practitioners (GPs) in Spain. METHODS: Clinical laboratories in different autonomic communities (AACCs) were invited to report the number of 25(OH)D test requested by GPs during 2012 and 2014. The number of 25(OH)D requested per 1000 inhabitants and the index of variability were calculated, and compared between regions and time periods...
February 23, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28227624/relationship-between-gait-variables-and-domains-of-neurologic-dysfunction-in-multiple-sclerosis-using-six-minute-walk-test
#19
Asma Qureshi, Maite Brandt-Pearce, Myla D Goldman, Asma Qureshi, Maite Brandt-Pearce, Myla D Goldman, Asma Qureshi, Myla D Goldman, Maite Brandt-Pearce
Most multiple sclerosis (MS) patients eventually suffer from mobility impairment, and thus it is critical that walking disability in MS be accurately assessed. The six-minute walk test (6MWT), a reliable MS measure, is traditionally used to determine the distance covered in six minutes using a standard protocol. With the availability of body sensor networks (BSNs), researchers are interested in leveraging BSN data for finding new gait assessment anchors for improved separability performance. Further, current methods for gait assessments are insufficient since assessments are absolute, performed by comparing outcomes to the statistical norms established from diverse patient data despite natural inter-patient variability...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224880/child-depression-prevalence-and-comparison-between-self-reports-and-teacher-reports
#20
Joana Jaureguizar, Elena Bernaras, Maite Garaigordobil
Depression is one of the most worrying diseases nowadays. The study had three main purposes: 1) to identify the prevalence of depressive symptomatology in 7-10 year olds, exploring differences according to gender and age; 2) to analyze the consistency between self-reports and teacher reports; and 3) to explore the relationship between depression and academic performance. Regarding the methodology, the sample comprised 420 students aged between 7 and 10 years from the Basque Country (53.3% boys, 46.7% girls)...
February 22, 2017: Spanish Journal of Psychology
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