keyword
MENU ▼
Read by QxMD icon Read
search

camilo

keyword
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#1
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#2
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
October 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29052075/dopamine-d1-receptor-activation-maintains-motor-coordination-and-balance-in-rats
#3
Alberto Avila-Luna, Arturo Gálvez-Rosas, Alfredo Durand-Rivera, Laura-Elisa Ramos-Languren, Camilo Ríos, José-Antonio Arias-Montaño, Antonio Bueno-Nava
Dopamine (DA) modulates motor coordination, and its depletion, as in Parkinson's disease, produces motor impairment. The basal ganglia, cerebellum and cerebral cortex are interconnected, have functional roles in motor coordination, and possess dopamine D1 receptors (D1Rs), which are expressed at a particularly high density in the basal ganglia. In this study, we examined whether the activation of D1Rs modulates motor coordination and balance in the rat using a beam-walking test that has previously been used to detect motor coordination deficits...
October 19, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29051964/identification-of-quality-improvement-areas-in-pediatric-mri-from-analysis-of-patient-safety-reports
#4
Camilo Jaimes, Diana J Murcia, Karen Miguel, Cathryn DeFuria, Pallavi Sagar, Michael S Gee
BACKGROUND: Analysis of safety reports has been utilized to guide practice improvement efforts in adult magnetic resonance imaging (MRI). Data specific to pediatric MRI could help target areas of improvement in this population. OBJECTIVE: To estimate the incidence of safety reports in pediatric MRI and to determine associated risk factors. MATERIALS AND METHODS: In a retrospective HIPAA-compliant, institutional review board-approved study, a single-institution Radiology Information System was queried to identify MRI studies performed in pediatric patients (0-18 years old) from 1/1/2010 to 12/31/2015...
October 19, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29047731/catadioptric-interfaces-for-designing-vlc-antennae
#5
Juan Camilo Valencia-Estrada, Jorge García-Marquez, Luc Chassagne, Suat Topsu
This paper presents a model to design bi-aspherical catadioptric lenses with limited image diffraction. A first refractive Cartesian oval surface that does not introduce any spherical aberration is used. When total internal reflection occurs, this surface can also be simultaneously used as a mirror. The reflective characteristics of Cartesian ovals are also well described in this paper. The theoretical work described here can considerably reduce computing time in optical system design. This model is applied to examples of antennae design for visible light communications (VLC)...
September 20, 2017: Applied Optics
https://www.readbyqxmd.com/read/29045567/individualized-positive-end-expiratory-pressure-in-obese-patients-during-general-anaesthesia-a-randomized-controlled-clinical-trial-using-electrical-impedance-tomography
#6
C Nestler, P Simon, D Petroff, S Hammermüller, D Kamrath, S Wolf, A Dietrich, L M Camilo, A Beda, A R Carvalho, A Giannella-Neto, A W Reske, H Wrigge
Background: General anaesthesia leads to atelectasis, reduced end-expiratory lung volume (EELV), and diminished arterial oxygenation in obese patients. We hypothesized that a combination of a recruitment manoeuvre (RM) and individualized positive end-expiratory pressure (PEEP) can avoid these effects. Methods: Patients with a BMI ≥35 kg m-2 undergoing elective laparoscopic surgery were randomly allocated to mechanical ventilation with a tidal volume of 8 ml kg-1 predicted body weight and (i) an RM followed by individualized PEEP titrated using electrical impedance tomography (PEEPIND) or (ii) no RM and PEEP of 5 cm H2O (PEEP5)...
October 16, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#7
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29040281/impaired-anti-fibrotic-effect-of-bone-marrow-derived-mesenchymal-stem-cell-in-a-mouse-model-of-pulmonary-paracoccidioidomycosis
#8
Julián Camilo Arango, Juan David Puerta-Arias, Paula Andrea Pino-Tamayo, Lina María Salazar-Peláez, Mauricio Rojas, Ángel González
Bone marrow-derived mesenchymal stem cells (BMMSCs) have been consider as a promising therapy in fibrotic diseases. Experimental models suggest that BMMSCs may be used as an alternative therapy to treat chemical- or physical-induced pulmonary fibrosis. We investigated the anti-fibrotic potential of BMMSCs in an experimental model of lung fibrosis by infection with Paracoccidioides brasiliensis. BMMSCs were isolated and purified from BALB/c mice using standardized methods. BALB/c male mice were inoculated by intranasal infection of 1...
October 17, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29030892/radical-behavior-of-co2-versus-its-deoxygenation-promoted-by-vanadium-aryloxide-complexes-how-the-geometry-of-intermediate-co2-adducts-determines-the-reactivity
#9
Sandro Gambarotta, Camilo Viasus, Nicholas Alderman, Ilia Korobkov, Sebastiano Licciulli
The reactivity of carbon dioxide with vanadium(III) aryloxo complexes has been investigated. The formation of either carbon monoxide or incorporation into the ligand system with the ultimate formation of organic ester was observed depending on the overall electron donor ability of the ligand field. DFT calculations were carried out to investigate the proposed mechanism for carbon dioxide coordination and reduction.
October 13, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29028444/development-and-in-house-validation-of-a-real-time-polymerase-chain-reaction-for-the-detection-of-listeria-monocytogenes-in-meat
#10
Camilo Reyes, Luciano H Linares, Fabiana Moredo, Juan P Lirón, Victoria Brusa, Alejandra Londero, Lucía Galli, Juan M Oteiza, Magdalena Costa, Gerardo A Leotta
Listeriosis is a foodborne disease caused by Listeria monocytogenes. The aims of this work were to develop and validate an in-house real-time polymerase chain reaction (RT-PCR) for the detection of L. monocytogenes, and to determine its prevalence in raw ground beef samples from 53 butcheries that also sell ready-to-eat foods. One set of primers and one hydrolysis probe were designed for hly gene detection and then challenged with pure strains. The detection was successful for all L. monocytogenes strains analyzed and negative for all non-L...
October 13, 2017: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/29026867/prevalence-of-carbapenem-resistant-gram-negative-infections-in-the-united-states-predominated-by-acinetobacter-baumannii-and-pseudomonas-aeruginosa
#11
Bin Cai, Roger Echols, Glenn Magee, Juan Camilo Arjona Ferreira, Gareth Morgan, Mari Ariyasu, Takuko Sawada, Tsutae Den Nagata
BACKGROUND: Carbapenem-resistant (CR) Gram-negative pathogens are recognized as a major health concern. This study examined the prevalence of infections due to 4 CR Gram-negative species (Acinetobacter baumannii, Pseudomonas aeruginosa, Klebsiella pneumoniae, and Escherichia coli) in the United States and assessed their impact on hospital stays and mortality. METHODS: Hospitalized patients with laboratory-confirmed infection due to any of the 4 Gram-negative pathogens were identified from the Premier Healthcare Database...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29021088/the-impact-of-strain-specific-immunity-on-lyme-disease-incidence-is-spatially-heterogeneous
#12
Camilo E Khatchikian, Robert B Nadelman, John Nowakowski, Ira Schwartz, Gary P Wormser, Dustin Brisson
Lyme disease, caused by the bacterium Borrelia burgdorferi, is the most common tick-borne infection in the US. Recent studies have demonstrated that the incidence of human Lyme disease would have been even greater were it not for the presence of strain-specific immunity, which protects previously infected patients against subsequent infections by the same B. burgdorferi strain. Here, spatial heterogeneity is incorporated into epidemiological models to accurately estimate the impact of strain-specific immunity on human Lyme disease incidence...
August 25, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28988832/effect-of-inoculum-on-the-anaerobic-digestion-of-food-waste-accounting-for-the-concentration-of-trace-elements
#13
Brayan Alexis Parra-Orobio, Andrés Donoso-Bravo, Juan Camilo Ruiz-Sánchez, Karen Jimena Valencia-Molina, Patricia Torres-Lozada
The production of renewable energy in the form of methane from the anaerobic digestion (AD) of food waste (FW) varies depending on factors such as the quantity and quality of the inoculum. This research evaluated the influence of trace elements (Ca, K, Fe, Zn, Al, Mg, Co, Ni, and Mo) present in inoculum from different sources (wastewater treatment plants (WWTPs): 2 agro-industrial WWTPs and 1 municipal WWTP) on the AD of FW. This study found that the source of the inoculum determines the content of macronutrients and trace elements, which can alter the requirements of the AD process and therefore affect methane production...
October 5, 2017: Waste Management
https://www.readbyqxmd.com/read/28983864/modeling-sexual-selection-in-t%C3%A3%C2%BAngara-frog-and-rationality-of-mate-choice
#14
Esteban Vargas Bernal, Camilo Sanabria Malagon
The males of the species of frogs Engystomops pustulosus produce simple and complex calls to lure females, as a way of intersexual selection. Complex calls lead males to a greater reproductive success than what simple calls do. However, the complex calls are also more attractive to their main predator, the bat Trachops cirrhosus. Therefore, as M. Ryan suggests in (The túngara frog: a study in sexual selection and communication. University of Chicago Press, Chicago, 1985), the complexity of the calls lets the frogs keep a trade-off between reproductive success and predation...
October 5, 2017: Bulletin of Mathematical Biology
https://www.readbyqxmd.com/read/28983764/effect-of-patient-age-on-accuracy-of-primary-mri-signs-of-long-head-of-biceps-tearing-and-instability-in-the-shoulder-an-mri-arthroscopy-correlation-study
#15
Camilo G Borrero, Joanna Costello, Marnie Bertolet, Dharmesh Vyas
OBJECTIVE: To determine the effect of patient age on the accuracy of primary MRI signs of long head of biceps (LHB) tendon tearing and instability in the shoulder using arthroscopy as a reference standard. MATERIALS AND METHODS: Subjects with MRI studies and subsequent arthroscopy documenting LHB tendon pathology were identified and organized into three age groups (18-40, 41-60, 61-87). Normal and tendinopathic tendons were labeled grade 0, partial tears grade 1 and full tears grade 2...
October 6, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28981652/prevalence-of-malnutrition-and-nutritional-characteristics-of-patients-with-inflammatory-bowel-disease
#16
María José Casanova, Maria Chaparro, Begoña Molina, Olga Merino, Ricardo Batanero, Carmen Dueñas-Sadornil, Pilar Robledo, Ana María Garcia-Albert, Maria Bienvenida Gómez-Sánchez, Xavier Calvet, Maria Del Roser Trallero, Miguel Montoro, Iria Vázquez, Mara Charro, Amaya Barragán, Francisco Martínez-Cerezo, Isabel Megias-Rangil, José María Huguet, Ezequiel Marti-Bonmati, Marta Calvo, Mariana Campderá, Margarita Muñoz-Vicente, Angel Merchante, Ansel David Ávila, Pilar Serrano-Aguayo, Ruth De Francisco, Daniel Hervías, Luis Bujanda, Gloria Esther Rodriguez, Luisa Castro-Laria, Manuel Barreiro-de Acosta, Manuel Van Domselaar, Patricia Ramirez de la Piscina, Javier Santos-Fernández, Alicia Algaba, Sandra Torra, Liliana Pozzati, Pilar López-Serrano, Maria Del Rosario Arribas, Maria Luisa Rincón, Andrés Camilo Peláez, Elena Castro, Antonio García-Herola, Cecilio Santander, Moisés Hernández-Alonso, Elisa Martín-Noguerol, María Gómez-Lozano, Tamara Monedero, Albert Villoria, Ariadna Figuerola, Andrés Castaño-García, Jesús M Banales, Laura Díaz-Hernández, Federico Argüelles-Arias, Javier López-Díaz, Isabel Pérez-Martínez, Noelia García-Talavera, Olivia Karina Nuevo-Siguairo, Sabino Riestra, Javier P Gisbert
Aims: This study sought to determine the prevalence of malnutrition in patients with inflammatory bowel disease, to analyse the dietary beliefs and behaviours of these patients, to study their body composition, to evaluate their muscular strength and to identify the factors associated with malnutrition in these patients. Methods: This was a prospective, multicentre study. Crohn's disease and ulcerative colitis patients from 30 Spanish centres, from the outpatient clinics, were included...
July 24, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28974386/sex-differences-in-parkinson%C3%AC-s-disease-features-on-clinical-symptoms-treatment-outcome-sexual-hormones-and-genetics
#17
REVIEW
Juan Camilo Jurado-Coronel, Ricardo Cabezas, Marco Fidel Ávila Rodríguez, Valentina Echeverría, Luis Miguel García-Segura, George E Barreto
Parkinson's disease (PD) is the second most frequent age-related neurodegenerative disorder. Sex is an important factor in the development of PD, as reflected by the fact that it is more common in men than in women by an approximate ratio of 2:1. Our hypothesis is that differences in PD among men and women are highly determined by sex-dependent differences in the nigrostriatal dopaminergic system, which arise from environmental, hormonal and genetic influences. Sex hormones, specifically estrogens, influence PD pathogenesis and might play an important role in PD differences between men and women...
September 30, 2017: Frontiers in Neuroendocrinology
https://www.readbyqxmd.com/read/28973927/soilborne-fungi-have-host-affinity-and-host-specific-effects-on-seed-germination-and-survival-in-a-lowland-tropical-forest
#18
Carolina Sarmiento, Paul-Camilo Zalamea, James W Dalling, Adam S Davis, Simon M Stump, Jana M U'Ren, A Elizabeth Arnold
The Janzen-Connell (JC) hypothesis provides a conceptual framework for explaining the maintenance of tree diversity in tropical forests. Its central tenet-that recruits experience high mortality near conspecifics and at high densities-assumes a degree of host specialization in interactions between plants and natural enemies. Studies confirming JC effects have focused primarily on spatial distributions of seedlings and saplings, leaving major knowledge gaps regarding the fate of seeds in soil and the specificity of the soilborne fungi that are their most important antagonists...
October 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28968510/molecular-diagnosis-of-symptomatic-toxoplasmosis-a-9-year-retrospective-and-prospective-study-in-a-referral-laboratory-in-s%C3%A3-o-paulo-brazil
#19
Lilian Muniz Camilo, Vera Lucia Pereira-Chioccola, Ricardo Gava, Cristina da Silva Meira-Strejevitch, Jose Ernesto Vidal, Cinara Cássia Brandão de Mattos, Fábio Batista Frederico, Luiz Carlos de Mattos, Lígia Cosentino Junqueira Franco Spegiorin
Symptomatic forms of toxoplasmosis are a serious public health problem and occur in around 10-20% of the infected people. Aiming to improve the molecular diagnosis of symptomatic toxoplasmosis in Brazilian patients, this study evaluated the performance of real time PCR (qPCR) testing two primer sets (B1 and REP-529) in detecting Toxoplasma gondii DNA. The methodology was assayed in 807 clinical samples with known clinical diagnosis, ELISA, and conventional PCR (cPCR) results in a 9-year period. All samples were from patients with clinical suspicion of several features of toxoplasmosis...
September 29, 2017: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28968006/disseminated-toxoplasmosis-in-a-heart-transplant-patient-despite-co-trimoxazole-prophylaxis-a-case-report
#20
Victoria Dávila, Gustavo Roncancio-Villamil, Luis Alfonso Correa, Catalina Restrepo, Camilo Alberto Madrid, Javier Mauricio González
We report the case of a 61 year-old male who underwent heart transplantation eight months before developing a systemic condition with central nervous system, lung, kidney, colonic, cutaneous, and hematologic involvement, found to be secondary to a systemic toxoplasmosis despite co-trimoxazole prophylaxis in a previous-to-transplant seronegative patient receiving a heart from a seropositive donor. A review of prophylactic options in our environment is discussed.
September 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
keyword
keyword
75887
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"