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https://www.readbyqxmd.com/read/28633070/length-and-repeat-sequence-variation-in-58-strs-and-94-snps-in-two-spanish-populations
#1
Ferran Casals, Roger Anglada, Núria Bonet, Raquel Rasal, Kristiaan J van der Gaag, Jerry Hoogenboom, Neus Solé-Morata, David Comas, Francesc Calafell
We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive parallel sequencing, we have used simple R scripts to uncover the sequence variation in the repeat region. Thus, we have found, across 58 STRs, 541 length-based alleles, which, after considering repeat-sequence variation, became 804 different alleles. All loci in both populations were in Hardy-Weinberg equilibrium...
June 16, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28594853/the-unexpected-co-occurrence-of-grn-and-mapt-p-a152t-in-basque-families-clinical-and-pathological-characteristics
#2
Fermin Moreno, Begoña Indakoetxea, Myriam Barandiaran, María Cristina Caballero, Ana Gorostidi, Francesc Calafell, Alazne Gabilondo, Mikel Tainta, Miren Zulaica, José F Martí Massó, Adolfo López de Munain, Pascual Sánchez-Juan, Suzee E Lee
BACKGROUND: The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the influence of the p.A152T MAPT variant on the clinical and neuropathological features of these Basque GRN families. METHODS AND FINDINGS: We compared clinical characteristics of 14 patients who carried the c.709-1G>A GRN mutation (GRN+/A152T-) with 21 patients who carried both the c...
2017: PloS One
https://www.readbyqxmd.com/read/28444560/y-chromosomal-sequences-of-diverse-indian-populations-and-the-ancestry-of-the-andamanese
#3
Mayukh Mondal, Anders Bergström, Yali Xue, Francesc Calafell, Hafid Laayouni, Ferran Casals, Partha P Majumder, Chris Tyler-Smith, Jaume Bertranpetit
We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data from the 1000 Genomes Project. In contrast to the more ancient ancestry in the South than in the North that has been claimed, we detected very similar coalescence times within Northern and Southern non-tribal Indian populations...
May 2017: Human Genetics
https://www.readbyqxmd.com/read/28338547/satisfaction-with-methadone-and-opioid-receptor-genes-polymorphisms-in-treatment-refractory-heroin-dependent-patients
#4
José Pérez de Los Cobos, Saul Alcaraz, Núria Siñol, Maria Jesús Arranz, Joan Trujols, Francesca Batlle, Francesc Calafell, Santiago Durán-Sindreu, Juliana Salazar
No abstract text is available yet for this article.
June 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28097634/schizophrenia-impact-on-family-dynamics
#5
REVIEW
Alejandra Caqueo-Urízar, Mar Rus-Calafell, Thomas K J Craig, Matias Irarrazaval, Alfonso Urzúa, Laurent Boyer, David R Williams
In many societies, family members are now the primary caregivers of mental health patients, taking on responsibilities traditionally under the purview of hospitals and medical professionals. The impact of this shift on the family is high, having both an emotional and economic toll. The aim of this paper is to review the main changes that occur in family dynamics for patients with schizophrenia. The article addresses three central themes: (i) changes in the family at the onset of the disorder, (ii) consequences for family members because of their caregiver role, and (iii) family interventions aimed at improving the complex dynamics within the family...
January 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28073088/characterization-of-the-iberian-y-chromosome-haplogroup-r-df27-in-northern-spain
#6
Patricia Villaescusa, María José Illescas, Laura Valverde, Miriam Baeta, Carolina Nuñez, Begoña Martínez-Jarreta, Maria Teresa Zarrabeitia, Francesc Calafell, Marian M de Pancorbo
The European paternal lineage R-DF27 has been proposed as a haplogroup of Iberian origin due to its maximum frequencies in the Iberian Peninsula. In this study, the distribution and structure of DF27 were characterized in 591 unrelated male individuals from four key populations of the north area of the Iberian Peninsula through the analysis of 12 Y-SNPs that define DF27 main sublineages. Additionally, Y-SNP allele frequencies were also gathered from the reference populations in the 1000 Genomes Project to compare and obtain a better landscape of the distribution of DF27...
March 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27817057/the-y-chromosome-as-the-most-popular-marker-in-genetic-genealogy-benefits-interdisciplinary-research
#7
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...
May 2017: 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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