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https://www.readbyqxmd.com/read/27817057/the-y-chromosome-as-the-most-popular-marker-in-genetic-genealogy-benefits-interdisciplinary-research
#1
REVIEW
Francesc Calafell, Maarten H D Larmuseau
The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages...
November 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27489250/an-assessment-of-a-massively-parallel-sequencing-approach-for-the-identification-of-individuals-from-mass-graves-of-the-spanish-civil-war-1936-1939
#2
Francesc Calafell, Roger Anglada, Núria Bonet, Mercedes González-Ruiz, Gemma Prats-Muñoz, Raquel Rasal, Carles Lalueza-Fox, Jaume Bertranpetit, Assumpció Malgosa, Ferran Casals
Next generation sequencing technologies have opened new opportunities in forensic genetics. Here we assess the applicability and performance of the MiSeq FGx™ & ForenSeq™ DNA Signature Prep Kit (Illumina) to the identification of individuals from the mass graves of the Spanish Civil War (1936-1939). The main limitations for individual identification are the low number of possible first-degree living relatives and the high levels of DNA degradation reported in previous studies. Massively parallel sequencing technologies enabling the analysis of hundreds of regions and prioritizing short length amplicons constitute a promising tool for this kind of approaches...
August 4, 2016: Electrophoresis
https://www.readbyqxmd.com/read/27262562/using-virtual-reality-to-investigate-psychological-processes-and-mechanisms-associated-with-the-onset-and-maintenance-of-psychosis-a-systematic-review
#3
REVIEW
Lucia R Valmaggia, Fern Day, Mar Rus-Calafell
PURPOSE: In the last decade researchers have embraced virtual reality to explore the psychological processes and mechanisms that are involved in the onset and maintenance of psychosis. A systematic review was conducted to synthesise the evidence of using virtual reality to investigate these mechanisms. METHODS: Web of Science, PsycINFO, Embase, and Medline were searched. Reference lists of collected papers were also visually inspected to locate any relevant cited journal articles...
July 2016: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/26799906/confronting-auditory-hallucinations-using-virtual-reality-the-avatar-therapy
#4
Mar Rus-Calafell, Philippa Garety, Tom Ward, Geoff Williams, Mark Huckvale, Julian Leff, Thomas K J Craig
The AVATAR therapy is a computer-based intervention which aims to reduce the frequency and severity of voices. The approach is based on computer technology which enables each patient to create an avatar of the entity (human or non-human) that they believe is talking to them. The therapist promotes a dialogue between the patient and the avatar in which the avatar progressively comes under the patient's control. Using real-time voice conversion delivery software, the therapist can modify the relationship between the patient and his/her voice...
2015: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/26795129/virtual-reality-in-the-psychological-treatment-for-mental-health-problems-an-systematic-review-of-recent-evidence
#5
REVIEW
Lucia R Valmaggia, Leila Latif, Matthew J Kempton, Maria Rus-Calafell
The aim of this paper is to provide a review of controlled studies of the use of Virtual Reality in psychological treatment (VRT). Medline, PsychInfo, Embase and Web of Science were searched. Only studies comparing immersive virtual reality to a control condition were included. The search resulted in 1180 articles published between 2012 and 2015, of these, 24 were controlled studies. The reviewed studies confirm the effectiveness of VRT compared to treatment as usual, and show similar effectiveness when VRT is compared to conventional treatments...
February 28, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/26582562/signatures-of-evolutionary-adaptation-in-quantitative-trait-loci-influencing-trace-element-homeostasis-in-liver
#6
Johannes Engelken, Guadalupe Espadas, Francesco M Mancuso, Nuria Bonet, Anna-Lena Scherr, Victoria Jímenez-Álvarez, Marta Codina-Solà, Daniel Medina-Stacey, Nino Spataro, Mark Stoneking, Francesc Calafell, Eduard Sabidó, Elena Bosch
Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health and disease, and they are tightly regulated in the human body. In order to assess variability and potential adaptive evolution of trace element homeostasis, we quantified 18 trace elements in 150 liver samples, together with the expression levels of 90 genes and abundances of 40 proteins involved in their homeostasis. Additionally, we genotyped 169 single nucleotide polymorphism (SNPs) in the same sample set...
March 2016: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/26517267/correction-no-major-host-genetic-risk-factor-contributed-to-a-h1n1-2009-influenza-severity
#7
Koldo Garcia-Etxebarria, María Alma Bracho, Juan Carlos Galán, Tomàs Pumarola, Jesús Castilla, Raúl Ortiz de Lejarazu, Mario Rodríguez-Dominguez, Inés Quintela, Núria Bonet, Marc Garcia-Garcerà, Angela Domínguez, Fernando González-Candelas, Francesc Calafell
No abstract text is available yet for this article.
2015: PloS One
https://www.readbyqxmd.com/read/26402429/genetic-heterogeneity-in-algerian-human-populations
#8
Asmahan Bekada, Lara R Arauna, Tahria Deba, Francesc Calafell, Soraya Benhamamouch, David Comas
The demographic history of human populations in North Africa has been characterized by complex processes of admixture and isolation that have modeled its current gene pool. Diverse genetic ancestral components with different origins (autochthonous, European, Middle Eastern, and sub-Saharan) and genetic heterogeneity in the region have been described. In this complex genetic landscape, Algeria, the largest country in Africa, has been poorly covered, with most of the studies using a single Algerian sample. In order to evaluate the genetic heterogeneity of Algeria, Y-chromosome, mtDNA and autosomal genome-wide makers have been analyzed in several Berber- and Arab-speaking groups...
2015: PloS One
https://www.readbyqxmd.com/read/26379185/no-major-host-genetic-risk-factor-contributed-to-a-h1n1-2009-influenza-severity
#9
Koldo Garcia-Etxebarria, María Alma Bracho, Juan Carlos Galán, Tomàs Pumarola, Jesús Castilla, Raúl Ortiz de Lejarazu, Mario Rodríguez-Dominguez, Inés Quintela, Núria Bonet, Marc Garcia-Garcerà, Angela Domínguez, Fernando González-Candelas, Francesc Calafell
While most patients affected by the influenza A(H1N1) pandemic experienced mild symptoms, a small fraction required hospitalization, often without concomitant factors that could explain such a severe course. We hypothesize that host genetic factors could contribute to aggravate the disease. To test this hypothesis, we compared the allele frequencies of 547,296 genome-wide single nucleotide polymorphisms (SNPs) between 49 severe and 107 mild confirmed influenza A cases, as well as against a general population sample of 549 individuals...
2015: PloS One
https://www.readbyqxmd.com/read/26269098/the-effects-of-an-audio-visual-assisted-therapy-aid-for-refractory-auditory-hallucinations-avatar-therapy-study-protocol-for-a-randomised-controlled-trial
#10
RANDOMIZED CONTROLLED TRIAL
Tom K J Craig, Mar Rus-Calafell, Thomas Ward, Miriam Fornells-Ambrojo, Paul McCrone, Richard Emsley, Philippa Garety
BACKGROUND: Psychological interventions which adopt an explicitly interpersonal approach are a recent development in the treatment of distressing voices. AVATAR therapy is one such approach which creates a direct dialogue between a voice-hearer and a computerised representation of their persecutory voice (the avatar) through which the person may be supported to gain a sense of greater power and control. The main objective of the trial is to test the clinical efficacy of this therapy to reduce the frequency and severity of auditory verbal hallucinations (AVH)...
2015: Trials
https://www.readbyqxmd.com/read/26250107/experimental-superposition-of-orders-of-quantum-gates
#11
Lorenzo M Procopio, Amir Moqanaki, Mateus Araújo, Fabio Costa, Irati Alonso Calafell, Emma G Dowd, Deny R Hamel, Lee A Rozema, Časlav Brukner, Philip Walther
Quantum computers achieve a speed-up by placing quantum bits (qubits) in superpositions of different states. However, it has recently been appreciated that quantum mechanics also allows one to 'superimpose different operations'. Furthermore, it has been shown that using a qubit to coherently control the gate order allows one to accomplish a task--determining if two gates commute or anti-commute--with fewer gate uses than any known quantum algorithm. Here we experimentally demonstrate this advantage, in a photonic context, using a second qubit to control the order in which two gates are applied to a first qubit...
2015: Nature Communications
https://www.readbyqxmd.com/read/25933062/combined-epigenetic-and-intraspecific-variation-of-the-drd4-and-sert-genes-influence-novelty-seeking-behavior-in-great-tit-parus-major
#12
Sepand Riyahi, Marta Sánchez-Delgado, Francesc Calafell, David Monk, Juan Carlos Senar
DNA methylation is one of the main epigenetic mechanisms that can regulate gene expression and is an important means for creating phenotypic variation. In the present study, we performed methylation profiling of 2 candidate genes for personality traits, namely DRD4 and SERT, in the great tit Parus major to ascertain whether personality traits and behavior within different habitats have evolved with the aid of epigenetic variation. We applied bisulphite PCR and strand-specific sequencing to determine the methylation profile of the CpG dinucleotides in the DRD4 and SERT promoters and also in the CpG island overlapping DRD4 exon 3...
2015: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/25689924/y-chromosome-diversity-in-catalan-surname-samples-insights-into-surname-origin-and-frequency
#13
Neus Solé-Morata, Jaume Bertranpetit, David Comas, Francesc Calafell
The biological behavior of the Y chromosome, which is paternally inherited, implies that males sharing the same surname may also share a similar Y chromosome. However, socio-cultural factors, such as polyphyletism, non-paternity, adoption, or matrilineal surname transmission, may prevent the joint transmission of the surname and the Y chromosome. By genotyping 17 Y-STRs and 68 SNPs in ~2500 male samples that each carried one of the 50 selected Catalan surnames, we could determine sets of descendants of a common ancestor, the population of origin of the common ancestor, and the date when such a common ancestor lived...
November 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/25609970/the-role-of-family-therapy-in-the-management-of-schizophrenia-challenges-and-solutions
#14
REVIEW
Alejandra Caqueo-Urízar, Mar Rus-Calafell, Alfonso Urzúa, Jorge Escudero, José Gutiérrez-Maldonado
Family interventions for schizophrenia have been amply demonstrated to be effective and are recommended by most of the international clinical guidelines. However, their implementation in the clinical setting as well as in treatment protocols of patients with psychosis has not been fully achieved yet. With the increasing deinstitutionalization of patients, family has begun to assume the role of care performed by psychiatric hospitals, with a high emotional cost for caregivers as well as the recognition of burden experiences...
2015: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/25526828/identifying-specific-cues-and-contexts-related-to-bingeing-behavior-for-the-development-of-effective-virtual-environments
#15
Joana Pla-Sanjuanelo, Marta Ferrer-García, José Gutiérrez-Maldonado, Giuseppe Riva, Alexis Andreu-Gracia, Antonios Dakanalis, Fernando Fernandez-Aranda, Laura Forcano, Joan Ribas-Sabaté, Nadine Riesco, Mar Rus-Calafell, Isabel Sánchez, Luís Sanchez-Planell
BACKGROUND: Binge eating behavior constitutes a central feature of both bulimia nervosa (BN) and binge eating disorder (BED). Cue exposure therapy (CET) has been proposed as an effective intervention. OBJECTIVE: To determine which situations and specific cues trigger higher levels of binge craving and to use the results in the development of virtual reality scenarios in which CET could be applied with BN and BED patients. METHOD: Participants were 101 outpatients, 50 with BED and 51 with BN, according to DSM-5 criteria, and 63 healthy undergraduate students who completed a self-administered questionnaire to assess binge craving...
April 2015: Appetite
https://www.readbyqxmd.com/read/25504046/mendelian-genes-for-parkinson-s-disease-contribute-to-the-sporadic-forms-of-the-disease
#16
Nino Spataro, Francesc Calafell, Laura Cervera-Carles, Ferran Casals, Javier Pagonabarraga, Berta Pascual-Sedano, Antònia Campolongo, Jaime Kulisevsky, Alberto Lleó, Arcadi Navarro, Jordi Clarimón, Elena Bosch
Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association studies have successfully uncovered a number of susceptibility loci for sporadic cases but those only explain a small fraction (6-7%) of PD heritability. It has been observed that some genes that confer susceptibility to PD through common risk variants also contain rare causing mutations for the Mendelian forms of the disease...
April 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/24887077/direct-squencing-from-the-minimal-number-of-dna-molecules-needed-to-fill-a-454-picotiterplate
#17
Mária Džunková, Marc Garcia-Garcerà, Llúcia Martínez-Priego, Giussepe D'Auria, Francesc Calafell, Andrés Moya
The large amount of DNA needed to prepare a library in next generation sequencing protocols hinders direct sequencing of small DNA samples. This limitation is usually overcome by the enrichment of such samples with whole genome amplification (WGA), mostly by multiple displacement amplification (MDA) based on φ29 polymerase. However, this technique can be biased by the GC content of the sample and is prone to the development of chimeras as well as contamination during enrichment, which contributes to undesired noise during sequence data analysis, and also hampers the proper functional and/or taxonomic assignments...
2014: PloS One
https://www.readbyqxmd.com/read/24875693/development-of-a-vr-application-for-binge-eating-treatment-identification-of-contexts-and-cues-related-to-bingeing-behavior-in-spanish-italian-patients
#18
Marta Ferrer-Garcia, José Gutiérrez-Maldonado, Joana Pla, Giuseppe Riva, Alexis Andreu-Gracia, Antonios Dakanalis, Fernando Fernandez-Aranda, Laura Forcano, Joan Ribas-Sabaté, Nadine Riesco, Mar Rus-Calafel, Isabel Sánchez, Luís Sanchez-Planell
The objective of this study was to identify frequent situations and specific cues that produce the craving to binge in Spanish and Italian samples of patients with eating disorders (ED). There were two main aims: to assess transcultural differences in the contexts and cues that elicit food craving; and to develop valid, reliable VR environments for effective cue-exposure therapy (CET) for patients from both countries. Twenty-six Spanish and 75 Italian ED patients completed an ad hoc questionnaire to assess contexts and cues that trigger the craving to binge...
2014: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/24870704/birth-of-a-healthy-boy-after-pgd-for-x-linked-heterotaxy-syndrome
#19
R Bautista-Llácer, M Pardo-Belenguer, E García-Mengual, C Sánchez-Matamoros, E Raga, J M Calafell, M S Cívico, F Fábregues, X Vendrell
No abstract text is available yet for this article.
August 2014: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/24820547/recent-radiation-of-r-m269-and-high-y-str-haplotype-resemblance-confirmed
#20
COMMENT
Neus Solé-Morata, Jaume Bertranpetit, David Comas, Francesc Calafell
No abstract text is available yet for this article.
July 2014: Annals of Human Genetics
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