Search results for "Sab"
showing 10 items of 3756 documents
Measuring the burden of disease and injury in Spain using disability-adjusted life years: An updated and policy-oriented overview
2011
Summary Objective To provide a comprehensive and detailed overview of the burden of disease in Spain for 2008. Implications for public health policies are discussed. Study design Cross-sectional population-based study. Methods Disability-adjusted life years (DALYs) were calculated at country level using the methodology developed in the Global Burden of Disease study. DALYs were divided into years of life lost and years of life lived with disability. Results were obtained using Spanish mortality data for 2008 and morbidity data estimated previously by the World Health Organization for Euro-A. Results In 2008, DALYs lost due to all diseases and injuries were estimated at 5.1 million. Non-comm…
Endocrine response after cervical manipulation and mobilization in people with chronic mechanical neck pain: a randomized controlled trial
2019
BACKGROUND: Most of the research on the effects of spinal manipulation on endocrine function has been done on healthy subjects and has yielded contradictory results. The potential role of cervical manual therapy intervention in order to induce changes in the endocrine system has not yet been investigated. AIM: The aim of this trial is to compare the effects on salivary cortisol levels and clinical outcomes of cervical manipulation versus cervical mobilization or sham manipulation in patients with chronic mechanical neck pain. DESIGN: Randomized controlled trial. SETTING: University of Alcala de Henares: outpatient (referrals from office workers). POPULATION: A total of 83 patients with chro…
The formation of structurally relevant units in artificial grammar learning
2002
A total of 78 adult participants were asked to read a sample of strings generated by a finite state grammar and, immediately after reading each string, to mark the natural segmentation positions with a slash bar. They repeated the same task after a phase of familiarization with the material, which consisted, depending on the group involved, of learning items by rote, performing a short term matching task, or searching for the rules of the grammar. Participants formed the same number of cognitive units before and after the training phase, thus indicating that they did not tend to form increasingly large units. However, the number of different units reliably decreased, whatever the task that…
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
2015
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specificall…
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
The latent nature of prolonged grief - A taxometric analysis: Results from a representative population sample
2017
Individuals suffering from prolonged grief disorder (PGD) show severe grief reactions after the death of a significant other, even beyond a period of grieving that is within a person's cultural and religious context. In addition to this core element, PGD can manifest in various ways. Symptoms may include persistent preoccupation, intense emotional pain, or impairment in important life domains. The symptoms, furthermore, have to be of culturally or religiously inappropriate extent or severity, taking into account different norms of grieving. PGD is discussed as a distinct diagnostic category in the revision of the International Classification of Diseases (ICD-11). Nosology of PGD has been hi…
Physical and psychosocial prerequisites of functioning in relation to work ability and general subjective well-being among office workers
2002
Objectives The purpose of the study was to investigate the physical and psychological prerequisites of functioning, as well as the social environment at work and personal factors, in relation to work ability and general subjective well-being in a group of office workers. Methods The study was a descriptive cross-sectional investigation, using path analysis, of office workers. The subjects comprised 88 volunteers, 24 men and 64 women, from the same workplace [mean age 45.7 (SD 8.6) years]. The independent variables were measured using psychosocial and physical questionnaires and physical measurements. The first dependent variable, work ability, was measured by a work ability index. The secon…
Efficacy of a proprioceptive exercise program in patients with nonspecific neck pain: a randomized controlled trial.
2020
BACKGROUND Nonspecific neck pain is associated with chronic pain, disability, reduced cervical mobility, postural control disorders and impaired proprioceptive control. AIM The aim of this study was to compare the effectiveness of two therapeutic exercise programs (i.e. cervical proprioception and cervical mobility) in reducing pain and disability in individuals with nonspecific neck pain. We further aimed to compare the effectiveness of the two treatments in improving pressure pain threshold, cervical range of motion and head repositioning accuracy. DESIGN This study was designed as a randomized controlled trial. SETTING This study took place in a private rehabilitation clinic. POPULATION …