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1.
Neurologia (Engl Ed) ; 2022 Aug 09.
Article in English | MEDLINE | ID: mdl-35961506

ABSTRACT

INTRODUCTION: The analysis of the core biomarkers of Alzheimer's Disease (AD) in the cerebrospinal fluid (CSF) is recommended in the clinical units where it is available. Because of the absence of universal validated values, the determination of specific cut-off points for each center and its population is recommended. The main objective of the CORCOBIA study was to determine the cut-off points of core AD CSF biomarkers for several centers (Parc de Salut Mar, Barcelona and Hospital General de Granollers), which work with the same reference laboratory (Laboratori de Referència de Catalunya). METHODS: Prospective study including cognitively unimpaired individuals (CU, n = 42), subjects with amnestic mild cognitive impairment (aMCI, n = 35) and patients with dementia due to Alzheimer's Disease (AD, n = 48), in whom clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture to analyse amyloid beta peptides (Aß42, Aß40), total tau (tTau) and phosphorylated Tau (pTau181) using the Lumipulse G600II (Fujirebio) was performed. The values of sensitivity (SE), specificity (SP), predictive values and area under the curve (AUC) were calculated, determining the cut-off point according to the Youden index by comparing the CU and AD groups. RESULTS: The resulting cut-offs and their AUC were the following: Aß42 750 pg/mL (AUC 0.809); Aß42/Aß40 0.062 (AUC 0.78); pTau181 69.85 pg/mL (AUC 0.81); tTau 522.0 pg/mL (AUC 0.79); Aß42/tTau 1.76 (AUC 0.86); Aß42/pTau181 10.25 (AUC 0.86). CONCLUSIONS: The determination of cut-off points of core AD CSF biomarkers for the participating centers allows a better diagnostic accuracy. The ratio CSF Aß42/pTau181 shows the highest AUC and better balance between sensitivity and specificity.

2.
Sep Purif Technol ; 282: 120049, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-34744488

ABSTRACT

Facemasks have become important tools to fight virus spread during the recent COVID-19 pandemic, but their effectiveness is still under debate. We present a computational model to predict the filtering efficiency of an N95-facemask, consisting of three non-woven fiber layers with different particle capturing mechanisms. Parameters such as fiber layer thickness, diameter distribution, and packing density are used to construct two-dimensional cross-sectional geometries. An essential and novel element is that the polydisperse fibers are positioned randomly within a simulation domain, and that the simulation is repeated with different random configurations. This strategy is thought to give a more realistic view of practical facemasks compared to existing analytical models that mostly assume homogeneous fiber beds of monodisperse fibers. The incompressible Navier-Stokes and continuity equations are used to solve the velocity field for various droplet-laden air inflow velocities. Droplet diameters are ranging from 10 nm to 1.0 µm, which covers the size range from the SARS-CoV-2 virus to the large virus-laden airborne droplets. Air inflow velocities varying between 0.1 m·s-1 to 10 m·s-1 are considered, which are typically encountered during expiratory events like breathing, talking, and coughing. The presented model elucidates the different capturing efficiencies (i.e., mechanical and electrostatic filtering) of droplets as a function of their diameter and air inflow velocity. Simulation results are compared to analytical models and particularly compare well with experimental results from literature. Our numerical approach will be helpful in finding new directions for anti-viral facemask optimization.

3.
Sci Rep ; 10(1): 11014, 2020 07 03.
Article in English | MEDLINE | ID: mdl-32620762

ABSTRACT

Mezcal is a traditional Mexican spirit, obtained from the distillation of fermented agave juices. Its preparation has been conducted for centuries in an artisanal manner. The method used to determine the correct alcohol content is of particular interest: a stream of the liquor is poured into a small vessel to induce surface bubbles. These bubbles, known as pearls by the Mezcal artisans, remain stable for tenths of seconds only if the alcohol content is close to 50%. For higher or lower alcohol content, the bubbles burst rapidly. The long bubble lifetime is the result of surfactant-induced surface tension changes. However, the precise mechanism and its relation to alcohol content remain unexplained. In this investigation, the extended lifetime of pearls was studied both experimentally and numerically. It was found that changes in surface tension, density, viscosity (resulting from mixing ethanol and water), and the presence of surfactants are all relevant to extend the bubble lifetime. The dimensionless bubble lifetime was found to reach its maximum value when the Bond number was close to unity, corresponding to 2 mm Mezcal bubbles. These findings show that the traditional empirical method does work. Beyond this, the understanding of the process provides physical insight to many other natural and industrial problems for which the stability of surface bubbles is of importance, such as bio-foams, froth floatation, and volcanic flows.

4.
Sci Rep ; 10(1): 7785, 2020 05 08.
Article in English | MEDLINE | ID: mdl-32385357

ABSTRACT

Despite the remarkable evolutionary success of insects at colonizing every conceivable terrestrial and aquatic habitat, only five Halobates (Heteroptera: Gerridae) species (~0.0001% of all known insect species) have succeeded at colonizing the open ocean - the largest biome on Earth. This remarkable evolutionary achievement likely required unique adaptations for them to survive and thrive in the challenging oceanic environment. For the first time, we explore the morphology and behavior of an open-ocean Halobates germanus and a related coastal species H. hayanus to understand mechanisms of these adaptations. We provide direct experimental evidence based on high-speed videos which reveal that Halobates exploit their specialized and self-groomed body hair to achieve extreme water repellence, which facilitates rapid skating and plastron respiration under water. Moreover, the grooming behavior and presence of cuticular wax aids in the maintenance of superhydrophobicity. Further, reductions of their body mass and size enable them to achieve impressive accelerations (~400 ms-2) and reaction times (~12 ms) to escape approaching predators or environmental threats and are crucial to their survival under harsh marine conditions. These findings might also inspire rational strategies for developing liquid-repellent surfaces for drag reduction, water desalination, and preventing bio-fouling.


Subject(s)
Biological Evolution , Body Size , Ecosystem , Heteroptera , Animals , Behavior, Animal , Heteroptera/anatomy & histology , Heteroptera/ultrastructure , Oceans and Seas
5.
J Thromb Haemost ; 15(9): 1859-1866, 2017 09.
Article in English | MEDLINE | ID: mdl-28696550

ABSTRACT

Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Accurate characterization of sitosterolemia helps us determine appropriate management. SUMMARY: Background Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PSs) usually result in xanthomas and premature coronary atherosclerosis, although hematologic abnormalities may occasionally be present. This clinical picture is unfamiliar to many physicians, and patients may be at high risk of misdiagnosis. Objectives To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL. Patient/Methods A 46-year-old female was referred to us with lifelong macrothrombocytopenia. She showed familial hypercholesterolemia-related xanthomas. Molecular analysis was performed with high-throughput sequencing. Plasma PS levels were evaluated with gas-liquid chromatography. The STSL landscape was reviewed with respect to specific online databases and all reports published since 1974. Results A blood smear revealed giant platelets and stomatocytes. Novel compound heterozygous variants were detected in exons 7 (c.914C>G) and 13 (c.1890delT) of ABCG5. The patient showed an increased plasma level of sitosterol. These findings support the diagnosis of STSL. In our review, we identified only 25 unrelated STLS patients who presented with hematologic abnormalities including macrothrombocytopenia. It remains unknown why only some patients develop hematologic abnormalities. Conclusions This is the first Spanish STSL patient to be reported and molecularly characterized. The early diagnosis of STLS is strongly supported by the presence of stomatocytes in blood smears. The definitive diagnosis of STSL by measurement of serum PS levels and molecular analyses prompted the use of ezetimibe therapy.


Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , Hypercholesterolemia/genetics , Intestinal Diseases/genetics , Lipid Metabolism, Inborn Errors/genetics , Lipoproteins/genetics , Mutation , Phytosterols/adverse effects , Thrombocytopenia/genetics , Xanthomatosis/genetics , Anticholesteremic Agents/therapeutic use , DNA Mutational Analysis , Ezetimibe/therapeutic use , Female , Genetic Predisposition to Disease , High-Throughput Nucleotide Sequencing , Humans , Hypercholesterolemia/blood , Hypercholesterolemia/diagnosis , Hypercholesterolemia/drug therapy , Intestinal Diseases/blood , Intestinal Diseases/diagnosis , Intestinal Diseases/drug therapy , Lipid Metabolism, Inborn Errors/blood , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/drug therapy , Middle Aged , Phenotype , Phytosterols/blood , Phytosterols/genetics , Sitosterols/blood , Spain , Thrombocytopenia/blood , Thrombocytopenia/diagnosis , Xanthomatosis/blood , Xanthomatosis/diagnosis
6.
Sci Rep ; 7(1): 3714, 2017 06 16.
Article in English | MEDLINE | ID: mdl-28623354

ABSTRACT

We demonstrate the viability of using four low-cost smartphone cameras to perform Tomographic PIV. We use colored shadows to imprint two or three different time-steps on the same image. The back-lighting is accomplished with three sets of differently-colored pulsed LEDs. Each set of Red, Green & Blue LEDs is shone on a diffuser screen facing each of the cameras. We thereby record the RGB-colored shadows of opaque suspended particles, rather than the conventionally used scattered light. We subsequently separate the RGB color channels, to represent the separate times, with preprocessing to minimize noise and cross-talk. We use commercially available Tomo-PIV software for the calibration, 3-D particle reconstruction and particle-field correlations, to obtain all three velocity components in a volume. Acceleration estimations can be done thanks to the triple pulse illumination. Our test flow is a vortex ring produced by forcing flow through a circular orifice, using a flexible membrane, which is driven by a pressurized air pulse. Our system is compared to a commercial stereoscopic PIV system for error estimations. We believe this proof of concept experiment will make this technique available for education, industry and scientists for a fraction of the hardware cost needed for traditional Tomo-PIV.

7.
Rev Sci Instrum ; 87(11): 11D619, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27910332

ABSTRACT

A tracer-encapsulated solid pellet (TESPEL) injection system for the TJ-II stellarator was recently developed. In order to reduce the time and cost for the development, we combined a TESPEL injector provided by National Institute for Fusion Science with an existing TJ-II cryogenic pellet injection system. Consequently, the TESPEL injection into the TJ-II plasma was successfully achieved, which was confirmed by several pellet diagnostics including a normal-incidence spectrometer for monitoring a tracer impurity behavior.

8.
J Thromb Haemost ; 14(12): 2410-2418, 2016 12.
Article in English | MEDLINE | ID: mdl-27681307

ABSTRACT

Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpression of Δ2GGCX. Hepatic and non-hepatic vitamin K-dependent proteins must be assayed to monitor VKCFD treatment. SUMMARY: Background Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in the γ-glutamyl carboxylase gene (GGCX) or the vitamin K epoxide reductase gene (VKORC1), with great heterogeneity in terms of both clinical presentation and response to treatment. Objective To characterize the molecular basis of VKCFD in a Spanish family. Methods and Results Sequencing of candidate genes, comparative genomic hybridization and massive sequencing identified a new mechanism causing VKCFD in the proband. Uniparental disomy (UPD) of chromosome 2 caused homozygosity of a mutation (c.44-1G>A) resulting in aberrant GGCX splicing. This change contributed to absent expression of the mRNA coding for the full-length protein, and to four-fold overexpression of the smaller mRNA isoform lacking exon 2 (Δ2GGCX). Δ2GGCX might be responsible for two unexpected clinical observations in the patient: (i) increased plasma osteocalcin levels following vitamin K1 supplementation; and (ii) a mild non-bleeding phenotype. Conclusions Our study identifies a new autosomal disease, VKCFD1, caused by UPD. These data suggest that the Δ2GGCX isoform may retain enzymatic activity, and strongly encourage the evaluation of both hepatic and non-hepatic vitamin K-dependent proteins to assess differing responses to vitamin K supplementation in VKCFD patients.


Subject(s)
Blood Coagulation , Uniparental Disomy , Vitamin K Epoxide Reductases/deficiency , Vitamin K/metabolism , Carbon-Carbon Ligases/genetics , Comparative Genomic Hybridization , Female , Hemostasis , Homozygote , Humans , Infant , Loss of Heterozygosity , Male , Mutation , Phenotype , Promoter Regions, Genetic , RNA, Messenger/metabolism , Spain , Vitamin K Epoxide Reductases/genetics
9.
Langmuir ; 32(28): 7159-69, 2016 07 19.
Article in English | MEDLINE | ID: mdl-27341165

ABSTRACT

We evaluate the effect of epoxy surface structuring on the evaporation of water droplets containing Staphylococcus epidermidis (S. epidermidis). During evaporation, droplets with S. epidermidis cells yield to complex wetting patterns such as the zipping-wetting1-3 and the coffee-stain effects. Depending on the height of the microstructure, the wetting fronts propagate circularly or in a stepwise manner, leading to the formation of octagonal or square-shaped deposition patterns.4,5 We observed that the shape of the dried droplets has considerable influence on the local spatial distribution of S. epidermidis deposited between micropillars. These changes are attributed to an unexplored interplay between the zipping-wetting1 and the coffee-stain6 effects in polygonally shaped droplets containing S. epidermidis. Induced capillary flows during evaporation of S. epidermidis are modeled with polystyrene particles. Bacterial viability measurements for S. epidermidis show high viability of planktonic cells, but low biomass deposition on the microstructured surfaces. Our findings provide insights into design criteria for the development of microstructured surfaces on which bacterial propagation could be controlled, limiting the use of biocides.


Subject(s)
Polystyrenes/chemistry , Staphylococcus epidermidis/chemistry , Water/chemistry , Staphylococcus epidermidis/ultrastructure
10.
Arch Esp Urol ; 68(1): 105-14, 2015.
Article in Spanish | MEDLINE | ID: mdl-25688536

ABSTRACT

UNLABELLED: The traditional health care model is currently facing new health requirements. The implementation of integrated urologic health systems can be one of the possible solutions to these needs. It is mandatory to explore a new health care model, which includes structural and organizational changes. The adequacy of the urology departments of IDCsalud-Madrid network hospitals, creating URORed, is a new system adaptable to constant changes, in order to offer professionalism and quality health care. OBJECTIVE: To describe the administrative/clinic management in the urology service of a health care model of Hospitals network (URORed at IDCsalud. Madrid), that has been included in a model of an Integrated network in a health care service. METHODS: In the period between November 2007 to October 2014, the urology departments of IDCsalud Madrid Group, have been included in a new organizational system, including 4 hospitals, currently with 27 urologists. Each center offers specific urologic services, sharing benefits and human resources. The same directive line leads all centers. RESULTS: The model offers an integrated and uniform urologic service to a specific population of 811.390 habitants (Population Census 2012), with capability to treat specific urologic diseases and to perform a correct clinical follow-up. CONCLUSIONS: Belonging to a health care model in network involves a change of attitude. It creates an organizational change, based on the processes and the results, which enables control of the management analytically, detecting the points that need to be optimized as well as those that are satisfactory. It implies developing a culture of learning and cooperation, so that the processes are fluent and have quality, to create clinical and technological projects in favor of new resource-generating research, based on the needs of the joint management of the hospitals network. The complexity of this model requires a work focused on the human resources, their concerns and their ability to coordinate actions to get results in terms of quality health care and professionalism.


Subject(s)
Delivery of Health Care/organization & administration , Hospital Departments/organization & administration , Models, Organizational , Urology/organization & administration , Humans
11.
Bull Entomol Res ; 105(1): 23-31, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25234707

ABSTRACT

The response of Grapholita molesta (Busck) males to three-component sex pheromone blends containing a 100% ratio of the major sex pheromone component, (Z)-8-dodecenyl acetate and a 10% ratio of (Z)-8-dodecenol, but with varying ratios of (E)-8-dodecenyl acetate (0.4, 5.4, 10.4, 30.4, and 100.1% E-blends) was tested with populations in eight stone and pome fruit orchards in Europe, Asia, and North and South America. Traps baited with the 5.4% E-blend caught significantly more males than traps with any other blend with all populations. Significantly more males were caught in traps baited with the 10.4% E-blend than in traps with the remaining blends, except with the 0.4% E-blend in Turkey. Significant differences in male moth catches occurred between the other blends with the 0.4>30.4% E-blend, and the 30.4>100.1% E-blend. Male moth catches with the 100.1% E-blend only differed from the hexane control in Chile. No apparent differences were noted to these blends in populations collected from pome or stone fruits. Flight tunnel assays to synthetic blends with a subset of populations were similar to the field results, but the breadth of the most attractive E-blends was wider. Flight tunnel assays also demonstrated a high level of male-female cross-attraction among field-collected populations. Female gland extracts from field-collected populations did not show any significant variation in their three-component blends. The only exceptions in these assays were that long-term laboratory populations were less responsive and attractive, and produced different blend ratios of the two minor components than recently collected field populations.


Subject(s)
Animal Communication , Moths/physiology , Sex Attractants/pharmacology , Sexual Behavior, Animal , Animals , Female , Food Chain , Geography , Male , Malus/physiology , Prunus/physiology
12.
Arch Esp Urol ; 66(10): 956-66, 2013 Dec.
Article in English, Spanish | MEDLINE | ID: mdl-24369190

ABSTRACT

OBJECTIVES: To assess the usefulness of multiparametric magnetic resonance imaging (MRI) in the staging of patients with localized prostate cancer (PC) and high risk of extracapsular disease (ECD). METHODS: Retrospective study including 30 patients with localized PC and high risk of ECD. Pathologist and radiologist established an ECD suspicion according to the evaluation of the prostatic biopsy specimens and the multiparametric MRI analysis, respectively. Radical prostatectomy (RP) specimen analysis was used as a definitive confirmatory reference. Kappa (k)test was used to assess the degree of consistency between the initial suspicion provided by both specialists and the reference RP specimen. RESULTS: When the prostatic gland was analyzed as a single unit, the pathological evaluation of the biopsy specimens did not correctly detect the risk of ECD in 46.6% of the patients (14/30; 10 FN; k=-0.035, 95%CI [-0.29-0.36]), while multiparametric MRI did not do in 36% of the cases (11/30, 9 FP; k=0.27, 95%CI [-0.03-0.61]). Whereas, if each side of the prostate (i.e. right and left) was considered as an independent observation, the pathologist wrongly predicted the risk of ECD in 35% of the cases (21/60; 18 FN; k=0.19, 95%CI [-0.03-0.40]), while the radiologist erred only in 18.3% of the cases (11/60; 7 FN and 4 FP; k=0, 61, 95%CI [0.40-0.81]). CONCLUSIONS: Data from our experience suggest an added value of multiparametric MRI in the clinical staging of localized PC in cases of high risk of ECD. Multiparametric MRI may be used as a helpful tool in the surgical planning and the decision-making process regarding the management of this entity.


Subject(s)
Magnetic Resonance Imaging , Prostate-Specific Antigen , Humans , Male , Prostatic Neoplasms/surgery , Retrospective Studies
13.
J Anim Sci ; 91(2): 623-32, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23230112

ABSTRACT

Genetic parameters such as heritability and correlations of fat traits in a Duroc population were dissected using molecular markers. The heritabilities of intramuscular fat in 2 muscles, the gluteus medius and LM, and back fat were 0.54, 0.48, and 0.23, respectively. The genetic correlations were well estimated with standardized SNP effects, being 0.65 between intramuscular fat traits and ∼0.37 between any intramuscular fat trait and back fat. Genetic correlations were overestimated when ignoring molecular information. Twelve chromosomes showed additive genetic variance for intramuscular fat compared with 8 for back fat. Population structure was accommodated using 4 different models. The number of significant, P < 5 × 10(-5) (suggestive, P < 2 × 10(-3)), SNP varied across models and ranged from 0 to 4 (2 to 261) for intramuscular fat in the gluteus medius, from 0 to 57 (9 to 564) for intramuscular fat in the LM, and from 3 to 4 (22 to 168) for back fat. Several SNP showed significant deviations from an additive mode of action. Only 2 SNP significantly affected 2 traits simultaneously.


Subject(s)
Adipose Tissue/physiology , Body Composition/genetics , Swine/genetics , Animals , Body Composition/physiology , Gene Regulatory Networks , Genome-Wide Association Study/veterinary , Genomics , Genotype , Male , Models, Genetic , Muscle, Skeletal , Swine/physiology
14.
Phys Rev Lett ; 109(18): 184502, 2012 Nov 02.
Article in English | MEDLINE | ID: mdl-23215284

ABSTRACT

The coalescence of viscous drops on a substrate is studied experimentally and theoretically. We consider cases where the drops can have different contact angles, leading to a very asymmetric coalescence process. Side view experiments reveal that the "bridge" connecting the drops evolves with self-similar dynamics, providing a new perspective on the coalescence of sessile drops. We show that the universal shape of the bridge is accurately described by similarity solutions of the one-dimensional lubrication equation. Our theory predicts that, once the drops are connected on a microscopic scale, the bridge grows linearly in time with a strong dependence on the contact angles. Without any adjustable parameters, we find quantitative agreement with all experiments.

15.
Biochimie ; 94(3): 662-72, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21971529

ABSTRACT

Adenines downstream of the initiation codon promote protein synthesis; however, some adenine-containing codons (AGA, AGG and AUA) at early positions inhibit protein synthesis when cognate tRNA is exhausted. It has also been reported, although not convincingly, the presence of adenines enhancing mRNA binding to the ribosome. To understand these apparent inconsistencies we analyzed the effect of these codons in mRNA-ribosome binding strength, mRNA stability, the production of peptidyl-tRNA (pep-tRNA) and protein synthesis. Constructs harboring lacZ derivatives were obtained by site directed mutagenesis where tandems of GGG, AGG, AGA, ATA and AAA codons were inserted at codon positions 2-3 and 3-4. Codons containing more adenines, irrespective of being common or rare, (AAA, ATA and AGA) promoted a higher synthesis of ß-galactosidase (ß-gal) in comparison with those rich in guanines (GGG and AGG) in a wild type transcription-translation system. Full-length mRNAs were also detected when the adenine-rich constructs were expressed in wild type cells. Under conditions where the pool of tRNAs is readily exhausted (pep-tRNA hydrolase defective cells), the adenine-rich lacZ derivatives caused a stronger and general inhibition of protein synthesis and cell growth. With the exception of the ATA lacZ derivative, only plasmid constructs containing hungry codons generated pep-tRNA (AGA and to a lesser extent AGG) in Pth defective cells. Codons containing more adenines clearly promoted lacZ mRNA binding to 30S subunit. The GGG lacZ mRNA showed a moderate increase in binding when mRNA secondary structures were disrupted by heating mRNAs before the binding assay which agrees with the lacZ mRNA secondary structures predicted with MFOLD. Altogether, these results indicate that mRNA binding to ribosome plays a major role in the enhancement of translation by adenine-rich codons irrespective of codon usage. This effect is naturally expressed in wild type systems and depends on adenine content, in contrast to the inhibition caused after over-expressing the lacZ derivatives containing rare codons in Pth defective cells.


Subject(s)
Adenine/chemistry , Codon/chemistry , Codon/genetics , Protein Biosynthesis/physiology , RNA, Messenger/genetics , RNA, Messenger/metabolism , RNA, Transfer, Amino Acyl/genetics , Ribosome Subunits, Small, Bacterial/metabolism , Protein Biosynthesis/genetics , RNA, Transfer, Amino Acyl/metabolism , Ribosome Subunits, Small, Bacterial/genetics
16.
Genet Res (Camb) ; 92(4): 273-81, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20943008

ABSTRACT

Historical information can be used, in addition to pedigree, traits and genotypes, to map quantitative trait locus (QTL) in general populations via maximum likelihood estimation of variance components. This analysis is known as linkage disequilibrium (LD) and linkage mapping, because it exploits both linkage in families and LD at the population level. The search for QTL in the wild population of Soay sheep on St. Kilda is a proof of principle. We analysed the data from a previous study and confirmed some of the QTLs reported. The most striking result was the confirmation of a QTL affecting birth weight that had been reported using association tests but not when using linkage-based analyses.


Subject(s)
Chromosome Mapping/methods , Linkage Disequilibrium , Models, Statistical , Quantitative Trait Loci , Alleles , Animals , Genetic Markers , Microsatellite Repeats/genetics , Phenotype , Sheep
17.
Rev. Soc. Esp. Dolor ; 16(8): 429-436, nov.-dic. 2009. tab
Article in Spanish | IBECS | ID: ibc-75752

ABSTRACT

Objetivo: Explorar la asociación entre la actividad física y el dolor de espalda crónico en estudiantes universitarios de áreas de la salud. Material y métodos: Se realizó un estudio de corte transversal, en el que participaron estudiantes universitarios de primero a décimo semestre, seleccionados aleatoriamente y matriculados entre febrero de 2007 y junio de 2008. Se analizaron variables sociodemográficas y el nivel de actividad física (AF) a partir del International Physical Activity Questionnaire (IPAQ) en su versión larga y en el dominio de tiempo libre; además, basándose en el IPAQ corto se registró el tiempo semanal de estar sentado o de pie, en la categoría hipoactivo. El dolor se caracterizó con el formulario de autorregistro del dolor (FAD), el tiempo de evolución se registró como agudo (< 3 meses) y crónico (> 3 meses),y el dolor de espalda se identificó para una o más de las siguientes localizaciones: cuello, espalda dorsal y lumbar. En el análisis se elaboraron modelos de regresión log-binomial simple y múltiple para estimar las razones de prevalencia (RP) y sus intervalos de confianza (IC) del 95%, definiendo como variable de salida el dolor de espalda crónico y como grupo de comparación los participantes sin dolor, considerando una α = 0,05. Resultados: En total participaron 237 estudiantes, edad promedio 20,6 ± 2 años y 62,9% de sexo femenino. Las prevalencias de actividad física baja, moderada y vigorosa fueron el85,2% (IC del 95%, 80,7-89,8), el 6,9% (IC del 95%, 3,5-10,3) y el 8,4% (IC del 95%, 4,9-12,0), respectivamente; se registró una mediana de horas de hipoactividad semanal de 60,5 h/semana...(AU)


Objective: To explore the association between physical activity and chronic back pain instudents of health occupations. Material and methods: A cross-sectional study was performed in university students from the first to tenth semesters, randomly selected and registered in the university between February, 2007 and June, 2008. Sociodemographic variables were gathered and physical activity was quantified through the long form of the International Physical Activity Questionnaire (IPAQ) in leisure time. The amount of time sitting or standing each week, in the hypoactive category, was also measured, using the short-form IPAQ. Pain was characterized using the Self Report of Pain Questionnaire (SRPQ) and the time since onset was registered as acute (< 3 months) or chronic (> 3 months). Back pain was recorded for one or more of the following locations: neck, dorsal and low back. Simple and multiple logbinomial regression models were used to estimate prevalence ratios (PR) and their 95% confidence intervals; the outcome variable was chronic back pain and the reference category consisted of students without pain (a = 0.05). Results: A total of 237 students, with a mean age of 20.6 ± 2 years (62.9% females), participated in the study. The prevalence of low, moderate and vigorous physical activity was 85.2% (95% CI 80.7-89.8), 6.9% (95% CI 3.5-10.3) and 8.4% (95% CI 4.9-12.0), respectively. The median weekly number of sitting hours was 60.5 h/week. The prevalence of pain on the day of the survey was 34.2%, (95% CI 28.1-40.2), that of acute pain was 18.3%(95% CI 12.8-23.9) and that of chronic pain 22.8% (95% CI 16.9-28.6); pain located in the neck was found in 60% (95% CI 49-71) and pain in the dorsal back in 57.5% (95% CI 46.4-68.6)...(AU)


Subject(s)
Humans , Male , Female , Adult , Back Pain/diagnosis , Back Pain/epidemiology , Back Pain/therapy , Exercise/physiology , Physical Exertion/physiology , /methods , /statistics & numerical data , 24419 , Cross-Sectional Studies , Logistic Models , Multivariate Analysis , Data Collection/instrumentation , Data Collection/methods
18.
Euro Surveill ; 10(2): 20-2, 2005 Feb.
Article in English | MEDLINE | ID: mdl-15735311

ABSTRACT

Estimates of the risk of bloodborne viral infections are essential for monitoring the safety of the blood supply and the impact of new screening tests. Incidence rates of seroconversion and the residual risk for HBV, HIV and HCV were calculated among Spanish repeat donors between 1997 and 1999 at 22 blood donation centres, and at 7 centres between 2000 and 2002. The residual risk per million donations was estimated to be 18.67 for HBV, 2.49 for HIV and 10.96 for HCV (between 1997 and 1999). For the 2000-2002 period, the residual risk per million donations was estimated to be 9.78 for HBV, 2.48 for HIV and 3.94 for HCV. Between 1999 and 2003, about 3.4 million donations were tested by NAT, mainly in pools of 44 donations, in 12 of the 22 Spanish blood donation centres participating in the study. Eight anti-HCV negative and HCV-RNA positive donations were found, which represent an approximate yield of 1/420,000, versus a projected yield of 1/240,000 obtained from 1995-1997 data. The residual risks of transfusion-transmitted viral infections in Spain were low, and with the implementation of NAT these risks are even lower.


Subject(s)
Blood Transfusion/statistics & numerical data , Disease Transmission, Infectious/statistics & numerical data , HIV Infections/epidemiology , Hepatitis B/epidemiology , Hepatitis C/epidemiology , Nucleic Acid Amplification Techniques/statistics & numerical data , DNA, Viral/blood , HIV Infections/transmission , Hepatitis B/transmission , Hepatitis C/transmission , Humans , Incidence , Mass Screening/statistics & numerical data , Mass Screening/trends , Risk Assessment/methods , Risk Factors , Spain/epidemiology , Tissue Donors/statistics & numerical data
19.
Euro Surveill ; 10(2): 11-12, 2005 Feb.
Article in English | MEDLINE | ID: mdl-29183492

ABSTRACT

Estimates of the risk of bloodborne viral infections are essential for monitoring the safety of the blood supply and the impact of new screening tests. Incidence rates of seroconversion and the residual risk for HBV, HIV and HCV were calculated among Spanish repeat donors between 1997 and 1999 at 22 blood donation centres, and at 7 centres between 2000 and 2002. The residual risk per million donations was estimated to be 18.67 for HBV, 2.49 for HIV and 10.96 for HCV (between 1997 and 1999). For the 2000-2002 period, the residual risk per million donations was estimated to be 9.78 for HBV, 2.48 for HIV and 3.94 for HCV. Between 1999 and 2003, about 3.4 million donations were tested by NAT, mainly in pools of 44 donations, in 12 of the 22 Spanish blood donation centres participating in the study. Eight anti-HCV negative and HCV-RNA positive donations were found, which represent an approximate yield of 1/420 000, versus a projected yield of 1/240 000 obtained from 1995-1997 data. The residual risks of transfusion-transmitted viral infections in Spain were low, and with the implementation of NAT these risks are even lower.

20.
An Pediatr (Barc) ; 61(6): 499-501, 2004 Dec.
Article in Spanish | MEDLINE | ID: mdl-15574249

ABSTRACT

BACKGROUND: Prenatal diagnosis of renal pyelectasis usually involves postnatal studies to determine whether treatment is necessary or not. OBJECTIVES: To determine the incidence of fetal pyelectasis in our environment, to review our postnatal management protocol, and to review definitive diagnoses. PATIENTS AND METHOD: We performed a retrospective review of newborns with a prenatal diagnosis of pyelectasis. The variables recorded included prenatal ultrasound examinations, gestational age, sex, anthropometric data, postnatal study (ultrasound, cystography, isotopic renogram) and indication for antibiotic prophylaxis. RESULTS: There were 21 newborns (nine boys and 12 girls). Pyelectasia were located in the right kidney in 10 patients, on the left in seven and were bilateral in four. Antibiotic prophylaxis was administered at birth in seven neonates. Postnatal ultrasound was performed at 17.19 +/- 12.7 days of life and revealed no abnormalities in seven patients, hydronephrosis grade I-II in nine, hydronephrosis grade III in three and suspected double excretion system in two. Cystourethrography and isotopic renogram were performed in six neonates. The definitive diagnoses in the 21 patients were: no abnormalities in 10, non-complicated renal dilatation in seven, double excretion system in two, vesicoureteral reflux grade IV in one and pyeloureteral stenosis in one. None of these newborns had urinary tract infection. CONCLUSIONS: The incidence of prenatal pyelectasis in our hospital is 2 %. Most pyelectasia resolve spontaneously in the first year of life and invasive investigations are not required. Adequate monitoring of these children can avoid urinary tract infections and their sequelae.


Subject(s)
Hydronephrosis , Kidney Pelvis/abnormalities , Urogenital Abnormalities/diagnosis , Anthropometry , Antibiotic Prophylaxis , Female , Humans , Hydronephrosis/epidemiology , Hydronephrosis/etiology , Hydronephrosis/therapy , Incidence , Infant, Newborn , Male , Remission, Spontaneous , Retrospective Studies , Ultrasonography, Prenatal , Urography , Vesico-Ureteral Reflux/etiology
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