Search results for "61"
showing 10 items of 3634 documents
Cohort Profile:The Socioeconomic Consequences in Adult Life After Childhood Cancer in Scandinavia (SALiCCS) Research Programme
2021
IntroductionThe growing number of survivors of childhood cancer, with many years of life ahead, demonstrates the increasing clinical and public health relevance of investigating the risks of social and socioeconomic impairment after a childhood cancer diagnosis and the life-saving treatment. To enrich understanding of the mental, social and socioeconomic difficulties that childhood cancer survivors may face during their life-course, identify particularly vulnerable survivors and overcome the limitations of previous research, we initiated the Socioeconomic Consequences in Adult Life after Childhood Cancer in Scandinavia (SALiCCS) research programme.MethodsThis Nordic cross-border research pr…
Childhood cancer:Survival, treatment modalities, late effects and improvements over time
2021
Since the 1960s, paediatric oncologists have gradually become better organised in large study groups and participation in clinical trials is today considered as the standard of care, with most children with cancer in Europe and North America being enrolled on available treatment protocols. Chemotherapy is nowadays the main element of therapy, but irradiation is still required for some patients. With the advent of multimodality therapy and supportive care, five-year cancer survival exceeds 80 % in most European and North American countries today. The substantial improvements in survival led to a constantly growing population of childhood cancer survivors. Concerns regarding the risk of late …
Optimización de la secuencia de difusión en RM 3T con modelo multifactorial IVIM en el estudio de la próstata
2017
Introducción El cáncer de próstata (caP) supone la neoplasia maligna más frecuentemente diagnosticada en el varón. Este tumor ha registrado un progresivo aumento de su incidencia en los últimos años, fundamentalmente por el amplio uso de la determinación del PSA (antígeno prostático específico en suero), el aumento de la esperanza de vida, y la existencia de más y mejores métodos diagnósticos. A pesar del aumento de su incidencia, actualmente muchos pacientes se consiguen diagnosticar en estadios iniciales de la enfermedad cuando el tumor está localizado y se pueden beneficiar de un aumento en las posibilidades de curación. Además, los avances en los tratamientos ofrecen nuevas opciones ter…
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
2013
The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
2006
Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…
Genome-wide association scan of attention deficit hyperactivity disorder
2008
Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…
Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder
2015
AbstractIn search for the elusive schizophrenia pathway, candidate genes for the disorder from a discovery sample were localized within the energy-delivering and ischemia protection pathway. To test the adult vascular-ischemic (AVIH) and the competing neurodevelopmental hypothesis (NDH), functional genomic analyses of practically all available schizophrenia-associated genes from candidate gene, genome-wide association and postmortem expression studies were performed. Our results indicate a significant overrepresentation of genes involved in vascular function (P<0.001), vasoregulation (that is, perivascular (P<0.001) and shear stress (P<0.01), cerebral ischemia (P<0.001), neurode…
Evaluación de las tarifas de las pensiones de accidentes de trabajo y enfermedades profesionales (2011-2015)
2017
Este trabajo analiza si las tarifas que se aplican para la determinación del denominado capital coste de pensiones derivadas de los accidentes de trabajo y enfermedades profesionales son las adecuadas. A partir de los datos de la Muestra Continua de Vidas Laborales y de la evolución de la longevidad de la población general en España, se estiman tablas de mortalidad para las contingencias de viudedad e invalidez que, combinadas con los parámetros económicos y financieros apropiados, permiten construir las bases técnicas actuarialmente justas para cada uno de los años objeto de análisis. Los resultados obtenidos sugieren que las tarifas aplicadas en el periodo 2011- 2014 han sido muy superior…
Expression of WISPs and of their novel alternative variants in human hepatocellular carcinoma cells
2005
WISPs (Wnt-induced secreted proteins) are members of the CCN (CTGF/Cyr61/Nov) family involved in fibrotic disorders and tumorigenesis. They have a typical structure composed of four conserved cysteine-rich modular domains, but variants of CCN members lacking one or more modules, generated by alternative splicing or gene mutations, have been described in various pathological conditions. WISP genes were first described as downstream targets of the Wnt signaling pathway, which is frequently altered in human hepatocellular carcinoma (HCC). In the present study, WISP mRNA expression was analyzed by RT-PCR in four human HCC cell lines (HepG2, HuH-6, HuH-7, HA22T/VGH). Our results show for the fir…